Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene

SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis–lymphedema–telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living pat...

Full description

Saved in:
Bibliographic Details
Published inClinical genetics Vol. 87; no. 4; pp. 378 - 382
Main Authors Moalem, S., Brouillard, P., Kuypers, D., Legius, E., Harvey, E., Taylor, G., Francois, M., Vikkula, M., Chitayat, D.
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.04.2015
Subjects
Online AccessGet full text

Cover

Loading…
Abstract SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis–lymphedema–telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnosed with HLTS and DNA analysis for the SOX18 gene showed that both had the identical heterozygous C > A transversion, resulting in a pre‐mature truncation of the protein, lacking the transactivation domain. Both living patients developed renal failure with severe hypertension in childhood for which both underwent renal transplantation. To our best knowledge this is the first report of renal failure associated with heterozygous mutations in the SOX18 gene. We conclude that this specific mutation results in a new, autosomal dominant condition and propose the acronym HLT‐renal defect syndrome for HLTRS.
AbstractList SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnosed with HLTS and DNA analysis for the SOX18 gene showed that both had the identical heterozygous C > A transversion, resulting in a pre-mature truncation of the protein, lacking the transactivation domain. Both living patients developed renal failure with severe hypertension in childhood for which both underwent renal transplantation. To our best knowledge this is the first report of renal failure associated with heterozygous mutations in the SOX18 gene. We conclude that this specific mutation results in a new, autosomal dominant condition and propose the acronym HLT-renal defect syndrome for HLTRS.
SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnosed with HLTS and DNA analysis for the SOX18 gene showed that both had the identical heterozygous C > A transversion, resulting in a pre-mature truncation of the protein, lacking the transactivation domain. Both living patients developed renal failure with severe hypertension in childhood for which both underwent renal transplantation. To our best knowledge this is the first report of renal failure associated with heterozygous mutations in the SOX18 gene. We conclude that this specific mutation results in a new, autosomal dominant condition and propose the acronym HLT-renal defect syndrome for HLTRS.
SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis–lymphedema–telangiectasia syndrome ( HLTS ). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnosed with HLTS and DNA analysis for the SOX18 gene showed that both had the identical heterozygous C > A transversion, resulting in a pre‐mature truncation of the protein, lacking the transactivation domain. Both living patients developed renal failure with severe hypertension in childhood for which both underwent renal transplantation. To our best knowledge this is the first report of renal failure associated with heterozygous mutations in the SOX18 gene. We conclude that this specific mutation results in a new, autosomal dominant condition and propose the acronym HLT‐renal defect syndrome for HLTRS.
Author Moalem, S.
Francois, M.
Chitayat, D.
Legius, E.
Taylor, G.
Kuypers, D.
Vikkula, M.
Brouillard, P.
Harvey, E.
Author_xml – sequence: 1
  givenname: S.
  surname: Moalem
  fullname: Moalem, S.
  organization: Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children
– sequence: 2
  givenname: P.
  surname: Brouillard
  fullname: Brouillard, P.
  organization: Laboratory of Human Molecular Genetics
– sequence: 3
  givenname: D.
  surname: Kuypers
  fullname: Kuypers, D.
  organization: Department of Nephrology and Renal Transplantation, University Hospital Gasthuisberg, Leuven, Belgium
– sequence: 4
  givenname: E.
  surname: Legius
  fullname: Legius, E.
  organization: Department of Human Genetics, KU Leuven, University Hospitals Leuven, Leuven, Belgium
– sequence: 5
  givenname: E.
  surname: Harvey
  fullname: Harvey, E.
  organization: Department of Pediatrics, Division of Nephrology, The Hospital for Sick Children, University of Toronto
– sequence: 6
  givenname: G.
  surname: Taylor
  fullname: Taylor, G.
  organization: Department of Pediatrics, Division of Pathology and laboratory Medicine, The Hospital for Sick Children
– sequence: 7
  givenname: M.
  surname: Francois
  fullname: Francois, M.
  organization: The University of Queensland, St Lucia Campus, Brisbane, Australia
– sequence: 8
  givenname: M.
  surname: Vikkula
  fullname: Vikkula, M.
  organization: Laboratory of Human Molecular Genetics
– sequence: 9
  givenname: D.
  surname: Chitayat
  fullname: Chitayat, D.
  email: dchitayat@mtsinai.on.ca
  organization: Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children
BackLink https://www.ncbi.nlm.nih.gov/pubmed/24697860$$D View this record in MEDLINE/PubMed
BookMark eNqNkU1vEzEQhi1URNPCgT-ALHGBg1t7veuPI4pKioioECAQF8v2ziYu-xFsr0r-PaZpe0BCYi4zHj_zyuP3BB2N0wgIPWf0jJU49xs4YxVX6hFaMK41oZTWR2hRkiaaCX6MTlK6LkcuG_0EHVe10FIJukD95X435Rj8dkohkX4_7LbQwmBJht6OmwA-2xQsiTDaHrfQlQa2KU0-2Awtvgl5iy3OcR69zWHc4GHOpZhGHEact4A_XX1jCm9ghKfocWf7BM_u8in68vbi8_KSrK9W75Zv1sTXulbE1c5pXmvvbCepF9wpUW6E6FQH4FvXSOdkxYFKCjW0rfBSS-HallHtm46folcH3V2cfs6QshlC8tCXhWCak2FCqEoooev_QRvGdEVVQV_-hV5Pcyy_ckvVVDMpZKFeHygfp5QidGYXw2Dj3jBq_rhlilvm1q3CvrhTnN0A7QN5b08Bzg_ATehh_28ls1xd3EuSw0RIGX49TNj4w5THycZ8_bAy6xUT1ff3Hw3lvwHQO6_u
CitedBy_id crossref_primary_10_1016_j_tig_2019_06_003
crossref_primary_10_25259_IJPGD_89_2023
crossref_primary_10_3390_ijms23137414
crossref_primary_10_1002_ajmg_a_62205
crossref_primary_10_1016_j_ejmg_2022_104607
crossref_primary_10_1097_MPH_0000000000000436
crossref_primary_10_1002_ajmg_a_40532
crossref_primary_10_3389_fsurg_2020_610758
crossref_primary_10_3390_cells11101692
crossref_primary_10_1152_physrev_00006_2020
crossref_primary_10_7554_eLife_43026
crossref_primary_10_1016_j_mcp_2015_11_005
crossref_primary_10_3390_cells12182309
crossref_primary_10_3892_ijo_2018_4378
crossref_primary_10_1053_j_sempedsurg_2014_06_014
crossref_primary_10_1093_nar_gkab820
crossref_primary_10_1016_j_cjca_2015_04_004
crossref_primary_10_1093_nar_gky897
crossref_primary_10_3390_ijms25052853
crossref_primary_10_1002_ajmg_a_63073
crossref_primary_10_1016_j_ejmg_2018_01_001
crossref_primary_10_3390_ijms21134790
crossref_primary_10_3389_fcell_2019_00089
crossref_primary_10_1016_j_mvr_2014_07_011
crossref_primary_10_1016_j_clinbiomech_2021_105417
Cites_doi 10.1007/BF00852899
10.1038/6844
10.1038/74301
10.1242/jcs.03081
10.1086/375614
10.1369/0022155411435152
10.1371/journal.pone.0030982
10.1038/ng.484
10.1007/s004670050578
10.1016/j.biocel.2009.08.017
10.1038/nature07391
10.1136/adc.62.12.1278
10.1002/humu.21378
10.1093/hmg/ddp219
10.1172/JCI71614
ContentType Journal Article
Copyright 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Copyright_xml – notice: 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
– notice: 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
– notice: 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
DBID BSCLL
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
7TK
8FD
FR3
P64
RC3
7X8
DOI 10.1111/cge.12388
DatabaseName Istex
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
Neurosciences Abstracts
Technology Research Database
Engineering Research Database
Biotechnology and BioEngineering Abstracts
Genetics Abstracts
MEDLINE - Academic
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
Genetics Abstracts
Engineering Research Database
Technology Research Database
Neurosciences Abstracts
Biotechnology and BioEngineering Abstracts
MEDLINE - Academic
DatabaseTitleList Genetics Abstracts
MEDLINE

MEDLINE - Academic
Genetics Abstracts
CrossRef
Database_xml – sequence: 1
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 2
  dbid: EIF
  name: MEDLINE
  url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
Biology
EISSN 1399-0004
EndPage 382
ExternalDocumentID 3626964131
10_1111_cge_12388
24697860
CGE12388
ark_67375_WNG_LG162ZKQ_0
Genre shortCommunication
Research Support, Non-U.S. Gov't
Journal Article
Case Reports
GeographicLocations Belgium
Canada
GeographicLocations_xml – name: Canada
– name: Belgium
GrantInformation_xml – fundername: F.R.S.‐FNRS (Fonds de la Recherche Scientifique)
– fundername: Belgian Science Policy Office Interuniversity Attraction Poles (BELSPO‐IAP)
GroupedDBID ---
.3N
.GA
.GJ
.Y3
05W
0R~
10A
1OB
1OC
29B
31~
33P
36B
3O-
3SF
4.4
50Y
50Z
51W
51X
52M
52N
52O
52P
52R
52S
52T
52U
52V
52W
52X
53G
5GY
5HH
5LA
5RE
5VS
66C
6J9
702
7PT
8-0
8-1
8-3
8-4
8-5
8UM
930
A01
A03
AAESR
AAEVG
AAHHS
AAKAS
AANLZ
AAONW
AAQQT
AASGY
AAXRX
AAZKR
ABCQN
ABCUV
ABEML
ABJNI
ABPPZ
ABPVW
ABQWH
ABXGK
ACAHQ
ACBWZ
ACCFJ
ACCZN
ACFBH
ACGFS
ACGOF
ACMXC
ACPOU
ACPRK
ACSCC
ACXBN
ACXQS
ADBBV
ADBTR
ADEOM
ADIZJ
ADKYN
ADMGS
ADOZA
ADXAS
ADZCM
ADZMN
ADZOD
AEEZP
AEGXH
AEIGN
AEIMD
AENEX
AEQDE
AEUQT
AEUYR
AFBPY
AFEBI
AFFNX
AFFPM
AFGKR
AFPWT
AFZJQ
AHBTC
AHEFC
AI.
AIACR
AITYG
AIURR
AIWBW
AJBDE
ALAGY
ALMA_UNASSIGNED_HOLDINGS
ALUQN
AMBMR
AMYDB
ASPBG
ATUGU
AVWKF
AZBYB
AZFZN
AZVAB
BAFTC
BDRZF
BFHJK
BHBCM
BMXJE
BROTX
BRXPI
BSCLL
BY8
C45
CAG
COF
CS3
D-6
D-7
D-E
D-F
DCZOG
DPXWK
DR2
DRFUL
DRMAN
DRSTM
DU5
DUUFO
EBS
EJD
EMOBN
ESX
EX3
F00
F01
F04
F5P
FEDTE
FUBAC
FZ0
G-S
G.N
GODZA
H.X
HF~
HGLYW
HVGLF
HZI
HZ~
IH2
IHE
IX1
J0M
K48
KBYEO
L7B
LATKE
LC2
LC3
LEEKS
LH4
LITHE
LOXES
LP6
LP7
LUTES
LW6
LYRES
MEWTI
MK4
MRFUL
MRMAN
MRSTM
MSFUL
MSMAN
MSSTM
MXFUL
MXMAN
MXSTM
N04
N05
N9A
NF~
O66
O9-
OBC
OBS
OIG
OVD
P2W
P2X
P2Z
P4B
P4D
PALCI
PQQKQ
Q.N
Q11
QB0
R.K
RIWAO
RJQFR
ROL
RX1
SAMSI
SUPJJ
TEORI
UB1
V8K
VH1
W8V
W99
WBKPD
WIH
WIJ
WIK
WNSPC
WOHZO
WOW
WQJ
WRC
WUP
WXI
WXSBR
WYISQ
XG1
YOC
YUY
ZGI
ZXP
ZZTAW
~IA
~WT
CGR
CUY
CVF
ECM
EIF
NPM
AAMNL
AAYXX
ACRPL
ACYXJ
CITATION
7TK
8FD
FR3
P64
RC3
7X8
ID FETCH-LOGICAL-c4948-b4bb9349cbaf70c63b86c4966f8feecdb57bb723e070e4edd6c7976bdd109c5f3
IEDL.DBID DR2
ISSN 0009-9163
IngestDate Wed Dec 04 04:36:27 EST 2024
Wed Dec 04 03:14:11 EST 2024
Tue Nov 19 05:27:39 EST 2024
Fri Dec 06 05:06:04 EST 2024
Sat Sep 28 08:03:35 EDT 2024
Sat Aug 24 01:05:26 EDT 2024
Wed Oct 30 09:50:21 EDT 2024
IsPeerReviewed true
IsScholarly true
Issue 4
Keywords HLTS
lymphedema
mosaicism
renal failure
HLTRS
SOX18 gene
lymphatics
Language English
License 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
http://onlinelibrary.wiley.com/termsAndConditions#vor
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c4948-b4bb9349cbaf70c63b86c4966f8feecdb57bb723e070e4edd6c7976bdd109c5f3
Notes istex:BCFA530B4C697C6CB9D98A2FCCA630B2F3278D09
Belgian Science Policy Office Interuniversity Attraction Poles (BELSPO-IAP)
F.R.S.-FNRS (Fonds de la Recherche Scientifique)
ArticleID:CGE12388
ark:/67375/WNG-LG162ZKQ-0
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ObjectType-Article-1
ObjectType-Feature-2
PMID 24697860
PQID 1664091767
PQPubID 32479
PageCount 5
ParticipantIDs proquest_miscellaneous_1668268694
proquest_miscellaneous_1665119208
proquest_journals_1664091767
crossref_primary_10_1111_cge_12388
pubmed_primary_24697860
wiley_primary_10_1111_cge_12388_CGE12388
istex_primary_ark_67375_WNG_LG162ZKQ_0
PublicationCentury 2000
PublicationDate April 2015
PublicationDateYYYYMMDD 2015-04-01
PublicationDate_xml – month: 04
  year: 2015
  text: April 2015
PublicationDecade 2010
PublicationPlace Oxford, UK
PublicationPlace_xml – name: Oxford, UK
– name: Denmark
– name: Malden
PublicationTitle Clinical genetics
PublicationTitleAlternate Clin Genet
PublicationYear 2015
Publisher Blackwell Publishing Ltd
Publisher_xml – name: Blackwell Publishing Ltd
References François M, Caprini A, Hosking B et al. Sox18 induces development of the lymphatic vasculature in mice. Nature 2008: 456: 643-7.
Irrthum A, Devriendt K, Chitayat D et al. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet 2003: 72: 1470-8.
Gimelli S, Caridi G, Beri S et al. Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. Hum Mutat 2010: 31: 1352-9.
Alders M, Hogan BM, Gjini E et al. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet 2009: 41: 1272-4.
McGuire JK, Harju-Baker S, Rims C et al. Matrilysin (MMP-7) inhibition of BMP-7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia. J Histochem Cytochem 2012: 60: 243-53.
Pennisi D, Gardner J, Chambers D et al. Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice. Nat Genet 2000: 24: 434-7.
Brouillard P, Boon LM, Vikkula M. Genetics of lymphatic anomalies. J Clin Invest 124 (3): in press.
Francois M, Koopman P, Beltrame M. SoxF genes: key players in the development of the cardio-vascular system. Int J Biochem Cell Biol 2010: 42: 445-8.
Gupta IR, Tsai CH, Siegel-Bartelt J et al. Cutaneous telangiectasias, sparse hair, and type I membranoproliferative glomerulonephritis. Pediatr Nephrol 1999: 13: 129-31.
Sherwood MC, Pincott JR, Goodwin FJ et al. Dominantly inherited glomerulonephritis and an unusual skin disease. Arch Dis Child 1987: 62: 1278-80.
Proesmans W, Legius E, Van Herck K et al. Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity. Pediatr Nephrol 1989: 3: 162-5.
Downes M, Francois M, Ferguson C et al. Vascular defects in the mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation. Hum Mol Genet 2009: 18: 2839-50.
Matsui T, Kanai-Azuma M, Hara K et al. Redundant roles of Sox17 and Sox18 in postnatal angiogenesis in mice. J Cell Sci 2006: 119: 3513-26.
Hoeth M, Niederleithner H, Hofer-Warbinek R et al. The transcription factor SOX18 regulates the expression of matrix metalloproteinase 7 and guidance molecules in human endothelial cells. PLoS One 2012: 7: e30982.
Wigle JT, Chowdhury K, Gruss P et al. Prox1 function is crucial for mouse lens-fibre elongation. Nat Genet 1999: 21: 318-22.
1989; 3
2012; 60
2010; 42
2010; 31
2009; 41
2006; 119
1987; 62
2000; 24
1999; 13
1999; 21
124
2008; 456
2003; 72
2012; 7
2009; 18
e_1_2_5_15_1
e_1_2_5_14_1
e_1_2_5_9_1
e_1_2_5_16_1
e_1_2_5_8_1
e_1_2_5_11_1
e_1_2_5_10_1
e_1_2_5_6_1
e_1_2_5_13_1
e_1_2_5_5_1
e_1_2_5_12_1
e_1_2_5_4_1
e_1_2_5_3_1
e_1_2_5_2_1
Brouillard P (e_1_2_5_7_1); 124
References_xml – volume: 119
  start-page: 3513
  year: 2006
  end-page: 26
  article-title: Redundant roles of Sox17 and Sox18 in postnatal angiogenesis in mice
  publication-title: J Cell Sci
– volume: 41
  start-page: 1272
  year: 2009
  end-page: 4
  article-title: Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
  publication-title: Nat Genet
– volume: 18
  start-page: 2839
  year: 2009
  end-page: 50
  article-title: Vascular defects in the mouse model of hypotrichosis‐lymphedema‐telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation
  publication-title: Hum Mol Genet
– volume: 60
  start-page: 243
  year: 2012
  end-page: 53
  article-title: Matrilysin (MMP‐7) inhibition of BMP‐7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia
  publication-title: J Histochem Cytochem
– volume: 21
  start-page: 318
  year: 1999
  end-page: 22
  article-title: Prox1 function is crucial for mouse lens‐fibre elongation
  publication-title: Nat Genet
– volume: 72
  start-page: 1470
  year: 2003
  end-page: 8
  article-title: Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis‐lymphedema‐telangiectasia
  publication-title: Am J Hum Genet
– volume: 13
  start-page: 129
  year: 1999
  end-page: 31
  article-title: Cutaneous telangiectasias, sparse hair, and type I membranoproliferative glomerulonephritis
  publication-title: Pediatr Nephrol
– volume: 42
  start-page: 445
  year: 2010
  end-page: 8
  article-title: SoxF genes: key players in the development of the cardio‐vascular system
  publication-title: Int J Biochem Cell Biol
– volume: 3
  start-page: 162
  year: 1989
  end-page: 5
  article-title: Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity
  publication-title: Pediatr Nephrol
– volume: 456
  start-page: 643
  year: 2008
  end-page: 7
  article-title: Sox18 induces development of the lymphatic vasculature in mice
  publication-title: Nature
– volume: 62
  start-page: 1278
  year: 1987
  end-page: 80
  article-title: Dominantly inherited glomerulonephritis and an unusual skin disease
  publication-title: Arch Dis Child
– volume: 7
  start-page: e30982
  year: 2012
  article-title: The transcription factor SOX18 regulates the expression of matrix metalloproteinase 7 and guidance molecules in human endothelial cells
  publication-title: PLoS One
– volume: 24
  start-page: 434
  year: 2000
  end-page: 7
  article-title: Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice
  publication-title: Nat Genet
– volume: 31
  start-page: 1352
  year: 2010
  end-page: 9
  article-title: Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
  publication-title: Hum Mutat
– volume: 124
  issue: 3
  article-title: Genetics of lymphatic anomalies
  publication-title: J Clin Invest
– ident: e_1_2_5_9_1
  doi: 10.1007/BF00852899
– ident: e_1_2_5_4_1
  doi: 10.1038/6844
– ident: e_1_2_5_6_1
  doi: 10.1038/74301
– ident: e_1_2_5_10_1
  doi: 10.1242/jcs.03081
– ident: e_1_2_5_8_1
  doi: 10.1086/375614
– ident: e_1_2_5_16_1
  doi: 10.1369/0022155411435152
– ident: e_1_2_5_15_1
  doi: 10.1371/journal.pone.0030982
– ident: e_1_2_5_11_1
  doi: 10.1038/ng.484
– ident: e_1_2_5_12_1
  doi: 10.1007/s004670050578
– ident: e_1_2_5_2_1
  doi: 10.1016/j.biocel.2009.08.017
– ident: e_1_2_5_3_1
  doi: 10.1038/nature07391
– ident: e_1_2_5_13_1
  doi: 10.1136/adc.62.12.1278
– ident: e_1_2_5_14_1
  doi: 10.1002/humu.21378
– ident: e_1_2_5_5_1
  doi: 10.1093/hmg/ddp219
– volume: 124
  issue: 3
  ident: e_1_2_5_7_1
  article-title: Genetics of lymphatic anomalies
  publication-title: J Clin Invest
  doi: 10.1172/JCI71614
  contributor:
    fullname: Brouillard P
SSID ssj0003759
Score 2.3002305
Snippet SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis–lymphedema–telangiectasia syndrome (HLTS). We report two families with...
SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). We report two families with...
SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis–lymphedema–telangiectasia syndrome ( HLTS ). We report two families...
SourceID proquest
crossref
pubmed
wiley
istex
SourceType Aggregation Database
Index Database
Publisher
StartPage 378
SubjectTerms Base Sequence
Belgium
Canada
Genetics
Heterozygote
HLTRS
HLTS
Humans
Hypotrichosis - genetics
Kidney - abnormalities
Kidney diseases
Kidney Transplantation
lymphatics
lymphedema
Lymphedema - genetics
Male
Molecular Sequence Data
mosaicism
Mutation
Point Mutation - genetics
renal failure
Sequence Analysis, DNA
SOX18 gene
SOXF Transcription Factors - genetics
Telangiectasis - genetics
Title Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene
URI https://api.istex.fr/ark:/67375/WNG-LG162ZKQ-0/fulltext.pdf
https://onlinelibrary.wiley.com/doi/abs/10.1111%2Fcge.12388
https://www.ncbi.nlm.nih.gov/pubmed/24697860
https://www.proquest.com/docview/1664091767
https://search.proquest.com/docview/1665119208
https://search.proquest.com/docview/1668268694
Volume 87
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnR3ZbtQwcFQVgXjhKFegIIMQ4iWrnHYinlBpdwW0iKNihSpFdjymq7bZag-J5YlP4Bv5EmZyQREgxFtiTyLbc3gujwEeKqVQmgj9TIeOvVW5n7ks961zRqvIlLKO4O_uydF-8nycjtfgSXcWpqkP0TvcmDNqec0Mrs38JyYvP-KAxG7GB33DWHE637M3P0pHUUve3aJGKlDcVhXiLJ7-yzN70Tle1k-_UzTP6q31xrNzGQ66ITf5JkeD5cIMys-_VHP8zzldgUutQiqeNhR0Fdaw2oDzzRWVqw24sNsG36_BbLQ6nXJB_8PpfDL_9uXr8YpIAS2eaHpZILs-JyQ_-VwmNcyQ_2uR80WEbqkArWDPr9BiMVtyPVraOcXJsskHEJNKkD4q3r4ah5kgysbrsL-z_W5r5LdXNvgl15nxTWJMHid5abRTQSljk0nqkdJlDrG0JlXGqChGkjSYoLWyVKQQGWvDIC9TF9-A9Wpa4S0QbOwENnURokksBtqlJnYEqhMduCT24EGHvOK0qcxRdBYNrWNRr6MHj2q09hB6dsSpbCot3u8Ni5fDUEYfXrwuAg82O7wXLRfPi1BKMn9DJZUH9_tu4j8OqugKp8sahkOxUZD9FYasuEzmiQc3G5rqBxQlkgx5SQN4XFPGn-dSbA2364fb_w56By6Shpc2qUabsE64xbukRS3MvZpdvgNHKxwA
link.rule.ids 314,780,784,1375,27924,27925,46294,46718
linkProvider Wiley-Blackwell
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Zb9QwEB6VVhwvHOUKFDAIIV6yymk7Ei-otLvQ3UVAq66QUGTHY1iVZqs9JJYnfgK_kV_COMdCESDEWxJPIh8z42-OjAEeCiGQ6wh9qULrvFWZL63MfGOtViLSBa8i-IMh7x0kL0bpaA2etP_C1PUhVg43JxmVvnYC7hzSP0l58R47pHelPAMbJO6hS-h69vpH8ahYpFl7jhqBoLipK-TyeFavntqNNtzEfvod1DyNXKutZ_cSvGs7XWecHHUWc90pPv9Sz_F_R3UZLjaYlD2tmegKrGG5CWfrUyqXm3Bu0MTfr8K0tzyZuJr-Hyaz8ezbl68fl8QNaPBY0c0cnfdzTCrU_ZpJD6bovmvQpYww1TACGuacv0yx-XThStLS5smOF3VKABuXjCApe_NyFEpGzI3X4GB3Z3-75zenNviFKzXj60TrLE6yQisrgoLHWnJq4dxKi1gYnQqtRRQjKRtM0BheCMJE2pgwyIrUxtdhvZyUeBOYs3cCk9oIUScGA2VTHVsiVYkKbBJ78KBdvfykLs6Rt0YNzWNezaMHj6p1XVGo6ZHLZhNpfjjs5v1uyKO3e6_ywIOtduHzRpBnecg5WcCh4MKD-6tmEkEXV1ElThYVjYvGRoH8Kw0ZcpJniQc3aqZadShKONnynDrwuGKNP48l3-7uVBe3_p30Hpzv7Q_6ef_5cO82XCDAl9aZR1uwTuuMdwhUzfXdSna-A_UBICE
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Zb9QwEB6VVlS8cJRroYBBCPGSVU47EU-o7e5C2-WsWCEky47HsCrNrvaQWJ74CfxGfgnjXFAECPGWxJPIx8x4rnwGuC-EQK5D9FIVWBetyrzUpplnrNVKhDrnZQb_cMgHR_HTUTJag0fNvzAVPkQbcHOSUeprJ-BTY38S8vw9dkntpukZ2Ih5mDng_N2XP7CjIpFkzTFqZANFNayQK-NpXz21GW24ef30O0vztOFa7jy9C_Cu6XNVcHLcXS50N__8C5zjfw7qIpyvLVL2uGKhS7CGxRacrc6oXG3B5mGdfb8Ms8FqOnGI_h8m8_H825evH1fEC2jwRNHNAl3sc0wK1P2YSQ9m6L5r0BWMMFWzARrmQr9MscVs6QBpaetkJ8uqIICNC0YGKXv1bBSkjFgbr8BRb-_1zsCrz2zwcgc04-lY6yyKs1wrK_ycRzrl1MK5TS1ibnQitBZhhKRqMEZjeC7IItLGBH6WJza6CuvFpMDrwJy345vEhog6Nugrm-jIEqmKlW_jqAP3msWT0wqaQzYuDc2jLOexAw_KZW0p1OzY1bKJRL4Z9uVBP-Dh2_0X0u_AdrPushbjuQw4J_83EFx04G7bTALosiqqwMmypHG52NBP_0pDblzKs7gD1yqeajsUxpw8eU4deFhyxp_HInf6e-XFjX8nvQObz3d78uDJcP8mnCNrL6nKjrZhnZYZb5FFtdC3S8n5DoqKHtA
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Hypotrichosis%E2%80%90lymphedema%E2%80%90telangiectasia%E2%80%90renal+defect+associated+with+a+truncating+mutation+in+the+SOX18+gene&rft.jtitle=Clinical+genetics&rft.au=Moalem%2C+S.&rft.au=Brouillard%2C+P.&rft.au=Kuypers%2C+D.&rft.au=Legius%2C+E.&rft.date=2015-04-01&rft.pub=Blackwell+Publishing+Ltd&rft.issn=0009-9163&rft.eissn=1399-0004&rft.volume=87&rft.issue=4&rft.spage=378&rft.epage=382&rft_id=info:doi/10.1111%2Fcge.12388&rft.externalDBID=10.1111%252Fcge.12388&rft.externalDocID=CGE12388
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0009-9163&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0009-9163&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0009-9163&client=summon