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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2010-9-29
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pubmed:abstractText |
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1098-1004
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pubmed:author |
pubmed-author:AftimosSalimS,
pubmed-author:AleckKyrieckos AKA,
pubmed-author:AmorDavidD,
pubmed-author:BieseckerLeslie GLG,
pubmed-author:BlackGraeme C MGC,
pubmed-author:BocianMaureenM,
pubmed-author:BodurthaJoann NJN,
pubmed-author:CoxGerald FGF,
pubmed-author:CurryCynthia JCJ,
pubmed-author:DayRuthR,
pubmed-author:DonnaiDianD,
pubmed-author:FieldMichaelM,
pubmed-author:FujiwaraIkumaI,
pubmed-author:GabbettMichaelM,
pubmed-author:GalMoranM,
pubmed-author:GrahamJohn MJM,
pubmed-author:HederaPeterP,
pubmed-author:HennekamRaoul C MRC,
pubmed-author:HershJoseph HJH,
pubmed-author:HopkinRobert JRJ,
pubmed-author:JohnstonJennifer JJJ,
pubmed-author:KayseriliHülyaH,
pubmed-author:KiddAlexa M JAM,
pubmed-author:KimonisVirginiaV,
pubmed-author:LinAngela EAE,
pubmed-author:LynchSally AnnSA,
pubmed-author:MaisenbacherMelissaM,
pubmed-author:MansourSaharS,
pubmed-author:McGaughranJulieJ,
pubmed-author:MehtaLakshmiL,
pubmed-author:MurphyHelenH,
pubmed-author:RaygadaMargaritaM,
pubmed-author:RobinNathaniel HNH,
pubmed-author:RopeAlan FAF,
pubmed-author:RosenbaumKenneth NKN,
pubmed-author:SappJulie CJC,
pubmed-author:SchaeferG BradleyGB,
pubmed-author:ShealyAmyA,
pubmed-author:SmithWendyW,
pubmed-author:SollerMariaM,
pubmed-author:SommerAnnmarieA,
pubmed-author:StalkerHeather JHJ,
pubmed-author:SteinerBernhardB,
pubmed-author:StephanMark JMJ,
pubmed-author:TilstraDavidD,
pubmed-author:TomkinsSusanS,
pubmed-author:TrapanePamelaP,
pubmed-author:TsaiAnne Chun-HuiAC,
pubmed-author:TurnerJoyce TJT,
pubmed-author:Van AllenMargot IMI,
pubmed-author:VasudevanPradeep CPC,
pubmed-author:ZabelBernhardB,
pubmed-author:ZunichJaniceJ
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pubmed:copyrightInfo |
Hum Mutat 31:1142-1154, 2010. © 2010 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
31
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1142-54
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pubmed:dateRevised |
2011-10-3
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pubmed:meshHeading |
pubmed-meshheading:20672375-Abnormalities, Multiple,
pubmed-meshheading:20672375-Craniofacial Abnormalities,
pubmed-meshheading:20672375-Genotype,
pubmed-meshheading:20672375-Humans,
pubmed-meshheading:20672375-Kruppel-Like Transcription Factors,
pubmed-meshheading:20672375-Mouth Abnormalities,
pubmed-meshheading:20672375-Mutation,
pubmed-meshheading:20672375-Nerve Tissue Proteins,
pubmed-meshheading:20672375-Pallister-Hall Syndrome,
pubmed-meshheading:20672375-Phenotype,
pubmed-meshheading:20672375-Polydactyly,
pubmed-meshheading:20672375-Syndactyly
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pubmed:year |
2010
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pubmed:articleTitle |
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
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pubmed:affiliation |
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA. jjohnsto@mail.nih.gov
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural,
Research Support, N.I.H., Intramural
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