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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and... Full description

Journal Title: The American Journal of Human Genetics 2005, Vol.76(4), pp.609-622
Main Author: Johnston, Jennifer J
Other Authors: Olivos-Glander, Isabelle , Killoran, Christina , Elson, Emma , Turner, Joyce T , Peters, Kathryn F , Abbott, Margaret H , Aughton, David J , Aylsworth, Arthur S , Bamshad, Michael J , Booth, Carol , Curry, Cynthia J , David, Albert , Dinulos, Mary Beth , Flannery, David B , Fox, Michelle A , Graham, John M , Grange, Dorothy K , Guttmacher, Alan E , Hannibal, Mark C
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1086/429346
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recordid: elsevier_sdoi_10_1086_429346
title: Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
format: Article
creator:
  • Johnston, Jennifer J
  • Olivos-Glander, Isabelle
  • Killoran, Christina
  • Elson, Emma
  • Turner, Joyce T
  • Peters, Kathryn F
  • Abbott, Margaret H
  • Aughton, David J
  • Aylsworth, Arthur S
  • Bamshad, Michael J
  • Booth, Carol
  • Curry, Cynthia J
  • David, Albert
  • Dinulos, Mary Beth
  • Flannery, David B
  • Fox, Michelle A
  • Graham, John M
  • Grange, Dorothy K
  • Guttmacher, Alan E
  • Hannibal, Mark C
subjects:
  • Biology
ispartof: The American Journal of Human Genetics, 2005, Vol.76(4), pp.609-622
description: Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 patients with GCPS and 46 patients with PHS. We detected 47 pathological mutations (among 60 probands); when these were combined with previously published mutations, two genotype-phenotype correlations were evident. First, GCPS was caused by many types of alterations, including translocations, large deletions, exonic deletions and duplications, small in-frame deletions, and missense, frameshift/nonsense, and splicing mutations. In contrast, PHS was caused only by frameshift/nonsense...
language: eng
source:
identifier: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1086/429346
fulltext: fulltext
issn:
  • 0002-9297
  • 00029297
  • 1537-6605
  • 15376605
url: Link


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titleMolecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
creatorJohnston, Jennifer J ; Olivos-Glander, Isabelle ; Killoran, Christina ; Elson, Emma ; Turner, Joyce T ; Peters, Kathryn F ; Abbott, Margaret H ; Aughton, David J ; Aylsworth, Arthur S ; Bamshad, Michael J ; Booth, Carol ; Curry, Cynthia J ; David, Albert ; Dinulos, Mary Beth ; Flannery, David B ; Fox, Michelle A ; Graham, John M ; Grange, Dorothy K ; Guttmacher, Alan E ; Hannibal, Mark C
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descriptionMutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 patients with GCPS and 46 patients with PHS. We detected 47 pathological mutations (among 60 probands); when these were combined with previously published mutations, two genotype-phenotype correlations were evident. First, GCPS was caused by many types of alterations, including translocations, large deletions, exonic deletions and duplications, small in-frame deletions, and missense, frameshift/nonsense, and splicing mutations. In contrast, PHS was caused only by frameshift/nonsense...
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titleMolecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
description

Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 patients with GCPS and 46 patients with PHS. We detected 47 pathological mutations (among 60 probands); when these were combined with previously published mutations, two genotype-phenotype correlations were evident. First, GCPS was caused by many types of alterations, including translocations, large deletions, exonic deletions and duplications, small in-frame deletions, and missense, frameshift/nonsense, and splicing mutations. In contrast, PHS was caused only by frameshift/nonsense...

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Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 patients with GCPS and 46 patients with PHS. We detected 47 pathological mutations (among 60 probands); when these were combined with previously published mutations, two genotype-phenotype correlations were evident. First, GCPS was caused by many types of alterations, including translocations, large deletions, exonic deletions and duplications, small in-frame deletions, and missense, frameshift/nonsense, and splicing mutations. In contrast, PHS was caused only by frameshift/nonsense...

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doi10.1086/429346
lad01The American Journal of Human Genetics
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