Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1

Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated with bi-allelic mutations in the gene COL25A1, raisi...

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Published inJournal of AAPOS Vol. 20; no. 6; pp. 542 - 544.e2
Main Authors Khan, Arif O., MD, Shinwari, Jameela M., Bsc, Al-Tassan, Nada A., PhD
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.12.2016
Subjects
Duane Retraction Syndrome - genetics
Humans
Mutation
Non-Fibrillar Collagens - genetics
Ophthalmology
Phenotype
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Abstract Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated with bi-allelic mutations in the gene COL25A1, raising the possibility that this particular Duane syndrome phenotype could be a monogenic recessive CCDD. To explore this possibility, we tested 4 consecutive unrelated subjects with the diagnosis for COL25A1 mutations. None harbored pathogenic variants, evidence that exotropic Duane syndrome with synergistic divergence is notspecifically caused by mutations in the gene.▪
AbstractList Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated with bi-allelic mutations in the gene COL25A1, raising the possibility that this particular Duane syndrome phenotype could be a monogenic recessive CCDD. To explore this possibility, we tested 4 consecutive unrelated subjects with the diagnosis for COL25A1 mutations. None harbored pathogenic variants, evidence that exotropic Duane syndrome with synergistic divergence is notspecifically caused by mutations in the gene.
Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated with bi-allelic mutations in the gene COL25A1, raising the possibility that this particular Duane syndrome phenotype could be a monogenic recessive CCDD. To explore this possibility, we tested 4 consecutive unrelated subjects with the diagnosis for COL25A1 mutations. None harbored pathogenic variants, evidence that exotropic Duane syndrome with synergistic divergence is notspecifically caused by mutations in the gene.▪
Author Khan, Arif O., MD
Al-Tassan, Nada A., PhD
Shinwari, Jameela M., Bsc
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Cites_doi 10.1016/j.ajhg.2014.11.006
10.1038/ng1636
10.1167/iovs.08-2928
10.1002/ajmg.a.33168
10.1167/iovs.11-7950
10.1002/ajmg.a.30321
10.1086/343821
10.1126/science.1156121
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References Khan, Shaheen, Alkuraya (bib7) 2014; 18
Miyake, Chilton, Psatha (bib5) 2008; 321
Wabbels, Lorenz, Kohlhase (bib9) 2004; 131
Al-Baradie, Yamada, St Hilaire (bib4) 2002; 71
Shinwari, Khan, Awad (bib2) 2015; 96
Oystreck, Khan, Vila-Coro (bib1) 2009; 50
Miyake, Demer, Shaaban (bib6) 2011; 52
Tischfield, Bosley, Salih (bib8) 2005; 37
Miyake, Andrews, Fan, He, Chan, Engle (bib10) 2010; 152A
Khan, Al-Mesfer (bib3) 2015; 19
Miyake (10.1016/j.jaapos.2016.05.019_bib5) 2008; 321
Wabbels (10.1016/j.jaapos.2016.05.019_bib9) 2004; 131
Miyake (10.1016/j.jaapos.2016.05.019_bib10) 2010; 152A
Miyake (10.1016/j.jaapos.2016.05.019_bib6) 2011; 52
Khan (10.1016/j.jaapos.2016.05.019_bib7) 2014; 18
Al-Baradie (10.1016/j.jaapos.2016.05.019_bib4) 2002; 71
Khan (10.1016/j.jaapos.2016.05.019_bib3) 2015; 19
Oystreck (10.1016/j.jaapos.2016.05.019_bib1) 2009; 50
Shinwari (10.1016/j.jaapos.2016.05.019_bib2) 2015; 96
Tischfield (10.1016/j.jaapos.2016.05.019_bib8) 2005; 37
References_xml – volume: 19
  start-page: 463
  year: 2015
  end-page: 465
  ident: bib3
  article-title: Recessive
  publication-title: J AAPOS
  contributor:
    fullname: Al-Mesfer
– volume: 18
  start-page: 362
  year: 2014
  end-page: 367
  ident: bib7
  article-title: The
  publication-title: J AAPOS
  contributor:
    fullname: Alkuraya
– volume: 131
  start-page: 216
  year: 2004
  end-page: 218
  ident: bib9
  article-title: No evidence of
  publication-title: Am J Med Genet A
  contributor:
    fullname: Kohlhase
– volume: 50
  start-page: 5213
  year: 2009
  end-page: 5216
  ident: bib1
  article-title: Synergistic divergence: a distinct ocular motility dysinnervation pattern
  publication-title: Invest Ophthalmol Vis Sci
  contributor:
    fullname: Vila-Coro
– volume: 71
  start-page: 1195
  year: 2002
  end-page: 1199
  ident: bib4
  article-title: Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in
  publication-title: Am J Hum Genet
  contributor:
    fullname: St Hilaire
– volume: 152A
  start-page: 215
  year: 2010
  end-page: 217
  ident: bib10
  article-title: mutations are not a common cause of sporadic Duane’s retraction syndrome
  publication-title: Am J Med Genet A
  contributor:
    fullname: Engle
– volume: 52
  start-page: 6321
  year: 2011
  end-page: 6328
  ident: bib6
  article-title: Expansion of the
  publication-title: Invest Ophthalmol Vis Sci
  contributor:
    fullname: Shaaban
– volume: 96
  start-page: 147
  year: 2015
  end-page: 152
  ident: bib2
  article-title: Recessive mutations in
  publication-title: Am J Hum Genet
  contributor:
    fullname: Awad
– volume: 37
  start-page: 1035
  year: 2005
  end-page: 1037
  ident: bib8
  article-title: Homozygous
  publication-title: Nat Genet
  contributor:
    fullname: Salih
– volume: 321
  start-page: 839
  year: 2008
  end-page: 843
  ident: bib5
  article-title: Human
  publication-title: Science
  contributor:
    fullname: Psatha
– volume: 96
  start-page: 147
  year: 2015
  ident: 10.1016/j.jaapos.2016.05.019_bib2
  article-title: Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder
  publication-title: Am J Hum Genet
  doi: 10.1016/j.ajhg.2014.11.006
  contributor:
    fullname: Shinwari
– volume: 37
  start-page: 1035
  year: 2005
  ident: 10.1016/j.jaapos.2016.05.019_bib8
  article-title: Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
  publication-title: Nat Genet
  doi: 10.1038/ng1636
  contributor:
    fullname: Tischfield
– volume: 50
  start-page: 5213
  year: 2009
  ident: 10.1016/j.jaapos.2016.05.019_bib1
  article-title: Synergistic divergence: a distinct ocular motility dysinnervation pattern
  publication-title: Invest Ophthalmol Vis Sci
  doi: 10.1167/iovs.08-2928
  contributor:
    fullname: Oystreck
– volume: 18
  start-page: 362
  year: 2014
  ident: 10.1016/j.jaapos.2016.05.019_bib7
  article-title: The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder
  publication-title: J AAPOS
  contributor:
    fullname: Khan
– volume: 152A
  start-page: 215
  year: 2010
  ident: 10.1016/j.jaapos.2016.05.019_bib10
  article-title: CHN1 mutations are not a common cause of sporadic Duane’s retraction syndrome
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.33168
  contributor:
    fullname: Miyake
– volume: 52
  start-page: 6321
  year: 2011
  ident: 10.1016/j.jaapos.2016.05.019_bib6
  article-title: Expansion of the CHN1 strabismus phenotype
  publication-title: Invest Ophthalmol Vis Sci
  doi: 10.1167/iovs.11-7950
  contributor:
    fullname: Miyake
– volume: 131
  start-page: 216
  year: 2004
  ident: 10.1016/j.jaapos.2016.05.019_bib9
  article-title: No evidence of SALL4-mutations in isolated sporadic Duane retraction “syndrome” (DURS)
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.30321
  contributor:
    fullname: Wabbels
– volume: 71
  start-page: 1195
  year: 2002
  ident: 10.1016/j.jaapos.2016.05.019_bib4
  article-title: Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
  publication-title: Am J Hum Genet
  doi: 10.1086/343821
  contributor:
    fullname: Al-Baradie
– volume: 321
  start-page: 839
  year: 2008
  ident: 10.1016/j.jaapos.2016.05.019_bib5
  article-title: Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome
  publication-title: Science
  doi: 10.1126/science.1156121
  contributor:
    fullname: Miyake
– volume: 19
  start-page: 463
  year: 2015
  ident: 10.1016/j.jaapos.2016.05.019_bib3
  article-title: Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence
  publication-title: J AAPOS
  contributor:
    fullname: Khan
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Snippet Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the...
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SubjectTerms Duane Retraction Syndrome - genetics
Humans
Mutation
Non-Fibrillar Collagens - genetics
Ophthalmology
Phenotype
Title Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1
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