Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria
Highlights • Arthrogryposis multiplex congenita due to a recurrent de novo BICD2 mutation • Extends phenotypic spectrum of BICD2 disease • Not dissimilar to evolving phenotypes associated with mutations of DYNC1H1 , which encodes a BICD2 binding partner
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| Published in | Neuromuscular disorders : NMD Vol. 26; no. 11; pp. 744 - 748 |
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| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Elsevier B.V
01.11.2016
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| Abstract | Highlights • Arthrogryposis multiplex congenita due to a recurrent de novo BICD2 mutation • Extends phenotypic spectrum of BICD2 disease • Not dissimilar to evolving phenotypes associated with mutations of DYNC1H1 , which encodes a BICD2 binding partner |
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| AbstractList | Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements. Both cases were diagnosed at birth with arthrogryposis multiplex congenita (AMC) and hypotonia. Other variable features included congenital fractures, hip dislocation, micrognathia, respiratory insufficiency, microcephaly and bilateral perisylvian polymicrogyria. Patient 1 is 4 years of age and stable, but shows significant motor developmental delay and delayed speech. Patient 2 passed away at 7 weeks of age. Through next generation sequencing we identified the same missense substitution in BICD2 (p.Arg694Cys) in both probands. Sanger sequencing showed that in both cases the mutation arose de novo. The in utero onset in both cases suggests that the p.Arg694Cys substitution may have a more deleterious effect on BICD2 function than previously described mutations. Our results broaden the phenotypes associated with BICD2 mutations to include AMC and cortical malformations and therefore to a similar phenotypic spectrum to that associated with its binding partner DYNC1H1. Highlights • Arthrogryposis multiplex congenita due to a recurrent de novo BICD2 mutation • Extends phenotypic spectrum of BICD2 disease • Not dissimilar to evolving phenotypes associated with mutations of DYNC1H1 , which encodes a BICD2 binding partner •Arthrogryposis multiplex congenita due to a recurrent de novo BICD2 mutation.•Extends phenotypic spectrum of BICD2 disease.•Not dissimilar to evolving phenotypes associated with mutations of DYNC1H1, which encodes a BICD2 binding partner. Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements. Both cases were diagnosed at birth with arthrogryposis multiplex congenita (AMC) and hypotonia. Other variable features included congenital fractures, hip dislocation, micrognathia, respiratory insufficiency, microcephaly and bilateral perisylvian polymicrogyria. Patient 1 is 4 years of age and stable, but shows significant motor developmental delay and delayed speech. Patient 2 passed away at 7 weeks of age. Through next generation sequencing we identified the same missense substitution in BICD2 (p.Arg694Cys) in both probands. Sanger sequencing showed that in both cases the mutation arose de novo. The in utero onset in both cases suggests that the p.Arg694Cys substitution may have a more deleterious effect on BICD2 function than previously described mutations. Our results broaden the phenotypes associated with BICD2 mutations to include AMC and cortical malformations and therefore to a similar phenotypic spectrum to that associated with its binding partner DYNC1H1. |
| Author | Poke, Gemma Craven, Paul D Ravenscroft, Gianina Hahn, Gabriele Davis, Mark R Neas, Katherine R Neuhann, Teresa M Laing, Nigel G Di Donato, Nataliya Dobyns, William B |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27751653$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1016/j.ajhg.2011.07.002 10.1016/j.ajhg.2013.04.013 10.1093/hmg/ddq361 10.1038/414611a 10.1093/hmg/ddv117 10.1136/jmedgenet-2011-100542 10.1093/brain/awu356 10.1016/j.braindev.2009.08.005 10.1111/ene.12914 10.1136/jmedgenet-2011-100211 10.1093/brain/awv013 10.1093/brain/awv159 10.1016/j.ajhg.2013.04.018 10.1007/s00415-015-7727-2 10.1126/science.1247363 10.1126/science.1083129 10.1016/j.ajhg.2015.04.014 10.1212/WNL.0000000000001269 10.1093/hmg/ddn182 10.1016/B978-0-444-59565-2.00003-4 10.1136/jnnp-2013-306777 10.3389/fnins.2015.00401 10.1038/ng.712 10.1093/brain/awq078 10.1002/humu.22744 10.1016/j.ajhg.2013.04.011 10.1038/ng.2613 10.1016/S0896-6273(00)80177-4 10.1002/ajmg.a.36395 |
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| Keywords | arthrogryposis fetal akinesia BICD2 perisylvian polymicrogyria Perisylvian polymicrogyria Arthrogryposis Fetal akinesia |
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| References | Pagnamenta, Howard, Wisniewski (bib0025) 2015; 24 Peeters, Bervoets, Chamova (bib0125) 2015; 36 Rossor, Oates, Salter (bib0090) 2015; 138 Peeters, Litvinenko, Asselbergh (bib0040) 2013; 92 Cabrera-Serrano, Ghaoui, Ravenscroft (bib0055) 2015; 138 Fiorillo, Moro, Brisca (bib0045) 2016; 23 Willemsen, Vissers, Willemsen (bib0120) 2012; 49 Poduri, Chitsazzadeh, D'Arrigo (bib0145) 2010; 32 Hall, Aldinger, Tanaka (bib0150) 2014; 164A Hafezparast, Klocke, Ruhrberg (bib0105) 2003; 300 Haliloglu, Topaloglu (bib0010) 2013; 113 Vissers, de Ligt, Gilissen (bib0115) 2010; 42 Leventer, Jansen, Pilz (bib0020) 2010; 133 Martinez-Carrera, Wirth (bib0075) 2015; 9 Novarino, Fenstermaker, Zaki (bib0080) 2014; 343 Braunstein, Eschbach, Rona-Voros (bib0110) 2010; 19 Bansagi, Griffin, Ramesh (bib0085) 2015; 138 Warner, Hilz, Appel (bib0095) 1996; 17 Oates, Rossor, Hafezparast (bib0035) 2013; 92 Scoto, Rossor, Harms (bib0130) 2015; 84 Teuling, van Dis, Wulf (bib0065) 2008; 17 Poirier, Lebrun, Broix (bib0135) 2013; 45 Synofzik, Martinez-Carrera, Lindig, Schols, Wirth (bib0050) 2014; 85 Neveling, Martinez-Carrera, Holker (bib0030) 2013; 92 Bullock, Ish-Horowicz (bib0070) 2001; 414 Strickland, Schabhuttl, Offenbacher (bib0140) 2015; 262 Weedon, Hastings, Caswell (bib0100) 2011; 89 Ravenscroft, Nolent, Rajagopalan (bib0060) 2015; 96 Ravenscroft, Sollis, Charles, North, Baynam, Laing (bib0015) 2011; 48 Haliloglu (10.1016/j.nmd.2016.09.009_bib0010) 2013; 113 Oates (10.1016/j.nmd.2016.09.009_bib0035) 2013; 92 Peeters (10.1016/j.nmd.2016.09.009_bib0040) 2013; 92 Vissers (10.1016/j.nmd.2016.09.009_bib0115) 2010; 42 Synofzik (10.1016/j.nmd.2016.09.009_bib0050) 2014; 85 Neveling (10.1016/j.nmd.2016.09.009_bib0030) 2013; 92 Bullock (10.1016/j.nmd.2016.09.009_bib0070) 2001; 414 Leventer (10.1016/j.nmd.2016.09.009_bib0020) 2010; 133 Bansagi (10.1016/j.nmd.2016.09.009_bib0085) 2015; 138 Teuling (10.1016/j.nmd.2016.09.009_bib0065) 2008; 17 Warner (10.1016/j.nmd.2016.09.009_bib0095) 1996; 17 Fiorillo (10.1016/j.nmd.2016.09.009_bib0045) 2016; 23 Poirier (10.1016/j.nmd.2016.09.009_bib0135) 2013; 45 Novarino (10.1016/j.nmd.2016.09.009_bib0080) 2014; 343 Ravenscroft (10.1016/j.nmd.2016.09.009_bib0060) 2015; 96 Cabrera-Serrano (10.1016/j.nmd.2016.09.009_bib0055) 2015; 138 Rossor (10.1016/j.nmd.2016.09.009_bib0090) 2015; 138 Strickland (10.1016/j.nmd.2016.09.009_bib0140) 2015; 262 Poduri (10.1016/j.nmd.2016.09.009_bib0145) 2010; 32 Weedon (10.1016/j.nmd.2016.09.009_bib0100) 2011; 89 Martinez-Carrera (10.1016/j.nmd.2016.09.009_bib0075) 2015; 9 Scoto (10.1016/j.nmd.2016.09.009_bib0130) 2015; 84 Ravenscroft (10.1016/j.nmd.2016.09.009_bib0015) 2011; 48 Hall (10.1016/j.nmd.2016.09.009_bib0150) 2014; 164A Willemsen (10.1016/j.nmd.2016.09.009_bib0120) 2012; 49 Pagnamenta (10.1016/j.nmd.2016.09.009_bib0025) 2015; 24 Hafezparast (10.1016/j.nmd.2016.09.009_bib0105) 2003; 300 Peeters (10.1016/j.nmd.2016.09.009_bib0125) 2015; 36 Braunstein (10.1016/j.nmd.2016.09.009_bib0110) 2010; 19 |
| References_xml | – volume: 92 start-page: 965 year: 2013 end-page: 973 ident: bib0035 article-title: Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia publication-title: Am J Hum Genet contributor: fullname: Hafezparast – volume: 23 start-page: e19 year: 2016 end-page: 21 ident: bib0045 article-title: Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2 publication-title: Eur J Neurol contributor: fullname: Brisca – volume: 45 start-page: 639 year: 2013 end-page: 647 ident: bib0135 article-title: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly publication-title: Nat Genet contributor: fullname: Broix – volume: 89 start-page: 308 year: 2011 end-page: 312 ident: bib0100 article-title: Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease publication-title: Am J Hum Genet contributor: fullname: Caswell – volume: 96 start-page: 955 year: 2015 end-page: 961 ident: bib0060 article-title: Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita publication-title: Am J Hum Genet contributor: fullname: Rajagopalan – volume: 84 start-page: 668 year: 2015 end-page: 679 ident: bib0130 article-title: Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy publication-title: Neurology contributor: fullname: Harms – volume: 9 start-page: 401 year: 2015 ident: bib0075 article-title: Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein publication-title: Front Neurosci contributor: fullname: Wirth – volume: 138 start-page: e391 year: 2015 ident: bib0085 article-title: The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy publication-title: Brain contributor: fullname: Ramesh – volume: 138 start-page: 836 year: 2015 end-page: 844 ident: bib0055 article-title: Expanding the phenotype of GMPPB mutations publication-title: Brain contributor: fullname: Ravenscroft – volume: 113 start-page: 1311 year: 2013 end-page: 1319 ident: bib0010 article-title: Arthrogryposis and fetal hypomobility syndrome publication-title: Handb Clin Neurol contributor: fullname: Topaloglu – volume: 85 start-page: 590 year: 2014 end-page: 592 ident: bib0050 article-title: Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype publication-title: J Neurol Neurosurg Psychiatry contributor: fullname: Wirth – volume: 19 start-page: 4385 year: 2010 end-page: 4398 ident: bib0110 article-title: A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons publication-title: Hum Mol Genet contributor: fullname: Rona-Voros – volume: 17 start-page: 2849 year: 2008 end-page: 2862 ident: bib0065 article-title: A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice publication-title: Hum Mol Genet contributor: fullname: Wulf – volume: 92 start-page: 946 year: 2013 end-page: 954 ident: bib0030 article-title: Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy publication-title: Am J Hum Genet contributor: fullname: Holker – volume: 17 start-page: 451 year: 1996 end-page: 460 ident: bib0095 article-title: Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination publication-title: Neuron contributor: fullname: Appel – volume: 36 start-page: 287 year: 2015 end-page: 291 ident: bib0125 article-title: Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies publication-title: Hum Mutat contributor: fullname: Chamova – volume: 42 start-page: 1109 year: 2010 end-page: 1112 ident: bib0115 article-title: A de novo paradigm for mental retardation publication-title: Nat Genet contributor: fullname: Gilissen – volume: 133 start-page: 1415 year: 2010 end-page: 1427 ident: bib0020 article-title: Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients publication-title: Brain contributor: fullname: Pilz – volume: 24 start-page: 3732 year: 2015 end-page: 3741 ident: bib0025 article-title: Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis publication-title: Hum Mol Genet contributor: fullname: Wisniewski – volume: 262 start-page: 2124 year: 2015 end-page: 2134 ident: bib0140 article-title: Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 publication-title: J Neurol contributor: fullname: Offenbacher – volume: 164A start-page: 700 year: 2014 end-page: 730 ident: bib0150 article-title: Amyoplasia revisited publication-title: Am J Med Genet A contributor: fullname: Tanaka – volume: 414 start-page: 611 year: 2001 end-page: 616 ident: bib0070 article-title: Conserved signals and machinery for RNA transport in Drosophila oogenesis and embryogenesis publication-title: Nature contributor: fullname: Ish-Horowicz – volume: 300 start-page: 808 year: 2003 end-page: 812 ident: bib0105 article-title: Mutations in dynein link motor neuron degeneration to defects in retrograde transport publication-title: Science contributor: fullname: Ruhrberg – volume: 138 start-page: 293 year: 2015 end-page: 310 ident: bib0090 article-title: Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2 publication-title: Brain contributor: fullname: Salter – volume: 343 start-page: 506 year: 2014 end-page: 511 ident: bib0080 article-title: Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders publication-title: Science contributor: fullname: Zaki – volume: 32 start-page: 550 year: 2010 end-page: 555 ident: bib0145 article-title: The syndrome of perisylvian polymicrogyria with congenital arthrogryposis publication-title: Brain Dev contributor: fullname: D'Arrigo – volume: 92 start-page: 955 year: 2013 end-page: 964 ident: bib0040 article-title: Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance publication-title: Am J Hum Genet contributor: fullname: Asselbergh – volume: 49 start-page: 179 year: 2012 end-page: 183 ident: bib0120 article-title: Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects publication-title: J Med Genet contributor: fullname: Willemsen – volume: 48 start-page: 793 year: 2011 end-page: 801 ident: bib0015 article-title: Fetal akinesia: review of the genetics of the neuromuscular causes publication-title: J Med Genet contributor: fullname: Laing – volume: 89 start-page: 308 year: 2011 ident: 10.1016/j.nmd.2016.09.009_bib0100 article-title: Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2011.07.002 contributor: fullname: Weedon – volume: 92 start-page: 955 year: 2013 ident: 10.1016/j.nmd.2016.09.009_bib0040 article-title: Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.04.013 contributor: fullname: Peeters – volume: 19 start-page: 4385 year: 2010 ident: 10.1016/j.nmd.2016.09.009_bib0110 article-title: A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons publication-title: Hum Mol Genet doi: 10.1093/hmg/ddq361 contributor: fullname: Braunstein – volume: 414 start-page: 611 year: 2001 ident: 10.1016/j.nmd.2016.09.009_bib0070 article-title: Conserved signals and machinery for RNA transport in Drosophila oogenesis and embryogenesis publication-title: Nature doi: 10.1038/414611a contributor: fullname: Bullock – volume: 24 start-page: 3732 year: 2015 ident: 10.1016/j.nmd.2016.09.009_bib0025 article-title: Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis publication-title: Hum Mol Genet doi: 10.1093/hmg/ddv117 contributor: fullname: Pagnamenta – volume: 49 start-page: 179 year: 2012 ident: 10.1016/j.nmd.2016.09.009_bib0120 article-title: Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects publication-title: J Med Genet doi: 10.1136/jmedgenet-2011-100542 contributor: fullname: Willemsen – volume: 138 start-page: 293 year: 2015 ident: 10.1016/j.nmd.2016.09.009_bib0090 article-title: Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2 publication-title: Brain doi: 10.1093/brain/awu356 contributor: fullname: Rossor – volume: 32 start-page: 550 year: 2010 ident: 10.1016/j.nmd.2016.09.009_bib0145 article-title: The syndrome of perisylvian polymicrogyria with congenital arthrogryposis publication-title: Brain Dev doi: 10.1016/j.braindev.2009.08.005 contributor: fullname: Poduri – volume: 23 start-page: e19 year: 2016 ident: 10.1016/j.nmd.2016.09.009_bib0045 article-title: Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2 publication-title: Eur J Neurol doi: 10.1111/ene.12914 contributor: fullname: Fiorillo – volume: 48 start-page: 793 year: 2011 ident: 10.1016/j.nmd.2016.09.009_bib0015 article-title: Fetal akinesia: review of the genetics of the neuromuscular causes publication-title: J Med Genet doi: 10.1136/jmedgenet-2011-100211 contributor: fullname: Ravenscroft – volume: 138 start-page: 836 year: 2015 ident: 10.1016/j.nmd.2016.09.009_bib0055 article-title: Expanding the phenotype of GMPPB mutations publication-title: Brain doi: 10.1093/brain/awv013 contributor: fullname: Cabrera-Serrano – volume: 138 start-page: e391 issue: Pt 11 year: 2015 ident: 10.1016/j.nmd.2016.09.009_bib0085 article-title: The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy publication-title: Brain doi: 10.1093/brain/awv159 contributor: fullname: Bansagi – volume: 92 start-page: 965 year: 2013 ident: 10.1016/j.nmd.2016.09.009_bib0035 article-title: Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.04.018 contributor: fullname: Oates – volume: 262 start-page: 2124 issue: 9 year: 2015 ident: 10.1016/j.nmd.2016.09.009_bib0140 article-title: Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 publication-title: J Neurol doi: 10.1007/s00415-015-7727-2 contributor: fullname: Strickland – volume: 343 start-page: 506 year: 2014 ident: 10.1016/j.nmd.2016.09.009_bib0080 article-title: Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders publication-title: Science doi: 10.1126/science.1247363 contributor: fullname: Novarino – volume: 300 start-page: 808 year: 2003 ident: 10.1016/j.nmd.2016.09.009_bib0105 article-title: Mutations in dynein link motor neuron degeneration to defects in retrograde transport publication-title: Science doi: 10.1126/science.1083129 contributor: fullname: Hafezparast – volume: 96 start-page: 955 year: 2015 ident: 10.1016/j.nmd.2016.09.009_bib0060 article-title: Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2015.04.014 contributor: fullname: Ravenscroft – volume: 84 start-page: 668 year: 2015 ident: 10.1016/j.nmd.2016.09.009_bib0130 article-title: Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy publication-title: Neurology doi: 10.1212/WNL.0000000000001269 contributor: fullname: Scoto – volume: 17 start-page: 2849 year: 2008 ident: 10.1016/j.nmd.2016.09.009_bib0065 article-title: A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice publication-title: Hum Mol Genet doi: 10.1093/hmg/ddn182 contributor: fullname: Teuling – volume: 113 start-page: 1311 year: 2013 ident: 10.1016/j.nmd.2016.09.009_bib0010 article-title: Arthrogryposis and fetal hypomobility syndrome publication-title: Handb Clin Neurol doi: 10.1016/B978-0-444-59565-2.00003-4 contributor: fullname: Haliloglu – volume: 85 start-page: 590 year: 2014 ident: 10.1016/j.nmd.2016.09.009_bib0050 article-title: Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp-2013-306777 contributor: fullname: Synofzik – volume: 9 start-page: 401 year: 2015 ident: 10.1016/j.nmd.2016.09.009_bib0075 article-title: Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein publication-title: Front Neurosci doi: 10.3389/fnins.2015.00401 contributor: fullname: Martinez-Carrera – volume: 42 start-page: 1109 year: 2010 ident: 10.1016/j.nmd.2016.09.009_bib0115 article-title: A de novo paradigm for mental retardation publication-title: Nat Genet doi: 10.1038/ng.712 contributor: fullname: Vissers – volume: 133 start-page: 1415 year: 2010 ident: 10.1016/j.nmd.2016.09.009_bib0020 article-title: Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients publication-title: Brain doi: 10.1093/brain/awq078 contributor: fullname: Leventer – volume: 36 start-page: 287 year: 2015 ident: 10.1016/j.nmd.2016.09.009_bib0125 article-title: Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies publication-title: Hum Mutat doi: 10.1002/humu.22744 contributor: fullname: Peeters – volume: 92 start-page: 946 year: 2013 ident: 10.1016/j.nmd.2016.09.009_bib0030 article-title: Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2013.04.011 contributor: fullname: Neveling – volume: 45 start-page: 639 year: 2013 ident: 10.1016/j.nmd.2016.09.009_bib0135 article-title: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly publication-title: Nat Genet doi: 10.1038/ng.2613 contributor: fullname: Poirier – volume: 17 start-page: 451 year: 1996 ident: 10.1016/j.nmd.2016.09.009_bib0095 article-title: Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination publication-title: Neuron doi: 10.1016/S0896-6273(00)80177-4 contributor: fullname: Warner – volume: 164A start-page: 700 year: 2014 ident: 10.1016/j.nmd.2016.09.009_bib0150 article-title: Amyoplasia revisited publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.36395 contributor: fullname: Hall |
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| Snippet | Highlights • Arthrogryposis multiplex congenita due to a recurrent de novo BICD2 mutation • Extends phenotypic spectrum of BICD2 disease • Not dissimilar to... •Arthrogryposis multiplex congenita due to a recurrent de novo BICD2 mutation.•Extends phenotypic spectrum of BICD2 disease.•Not dissimilar to evolving... Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few... |
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| SubjectTerms | Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Abnormalities, Multiple - therapy Arthrogryposis Arthrogryposis - diagnostic imaging Arthrogryposis - genetics Arthrogryposis - therapy BICD2 Child, Preschool Fatal Outcome Fetal akinesia Humans Infant Intellectual Disability - diagnostic imaging Intellectual Disability - genetics Intellectual Disability - therapy Male Malformations of Cortical Development - diagnostic imaging Malformations of Cortical Development - genetics Malformations of Cortical Development - therapy Microtubule-Associated Proteins - genetics Mutation Neurology Perisylvian polymicrogyria Phenotype |
| Title | Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria |
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