Literature DB >> 28794911

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene.

Smrithi Salian1, Anju Shukla1, Gen Nishimura2, Katta M Girisha1.   

Abstract

Brachydactyly type A1 (BDA1) is characterized by short middle phalanges. We report the case of a child with a severe form of BDA1 with complete absence of the middle phalanges of all extremities. He had c.298G > A (p.D100N) mutation in IHH gene.

Entities:  

Keywords:  GDF5; IHH; brachydactyly type A

Year:  2017        PMID： 28794911      PMCID： PMC5548527          DOI： 10.1055/s-0037-1599201

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  13 in total

1.  Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.

Authors:  N Giordano; L Gennari; M Bruttini; F Mari; I Meloni; C Baldi; S Capoccia; S Geraci; D Merlotti; A Amendola; G Martini; R Nuti; C Gennari; A Renieri
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

2.  Mutations in GDF5 presenting as semidominant brachydactyly A1.

Authors:  Ashley M Byrnes; Lemuel Racacho; Sarah M Nikkel; Fengxia Xiao; Heather MacDonald; T Michael Underhill; Dennis E Bulman
Journal:  Hum Mutat       Date:  2010-10       Impact factor: 4.878

3.  The genetics of hand malformations.

Authors:  S A Temtamy; V A McKusick
Journal:  Birth Defects Orig Artic Ser       Date:  1978

4.  A century later Farabee has his mutation.

Authors:  M Elizabeth McCready; Allison Grimsey; Timothy Styer; Sarah M Nikkel; Dennis E Bulman
Journal:  Hum Genet       Date:  2005-05-11       Impact factor: 4.132

5.  Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.

Authors:  Guoming Zhu; Xin Ke; Qiji Liu; Jisheng Li; Bingxi Chen; Changshun Shao; Yaoqin Gong
Journal:  Am J Med Genet A       Date:  2007-06-01       Impact factor: 2.802

6.  A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

Authors:  Mugen Liu; Xu Wang; Zhou Cai; Zhaohui Tang; Kangsheng Cao; Bo Liang; Xiang Ren; Jing Yu Liu; Qing K Wang
Journal:  J Hum Genet       Date:  2006-07-27       Impact factor: 3.172

7.  Classification and identification of inherited brachydactylies.

Authors:  N Fitch
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

8.  A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

Authors:  M Elizabeth McCready; Elizabeth Sweeney; Allan E Fryer; Dian Donnai; Akeel Baig; Lemuel Racacho; Matthew L Warman; Alasdair G W Hunter; Dennis E Bulman
Journal:  Hum Genet       Date:  2002-09-07       Impact factor: 4.132

9.  Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.

Authors:  T J Kirkpatrick; K-S Au; J M Mastrobattista; M E McCready; D E Bulman; H Northrup
Journal:  J Med Genet       Date:  2003-01       Impact factor: 6.318

10.  Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.

Authors:  Eva-Lena Stattin; Bjarne Lindén; Torsten Lönnerholm; Jens Schuster; Niklas Dahl
Journal:  Eur J Med Genet       Date:  2009-05-21       Impact factor: 2.708
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  2 in total

1.  A novel variant of IHH in a Chinese family with brachydactyly type 1.

Authors:  Qi Yang; Jin Wang; Xiaoxian Tian; Fei Shen; Jing Lan; Qiang Zhang; Xin Fan; Shang Yi; Mengting Li; Yiping Shen
Journal:  BMC Med Genet       Date:  2020-03-24       Impact factor: 2.103

2.  Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.

Authors:  Nozomu Ozaki; Hiroko Okuda; Hatasu Kobayashi; Kouji H Harada; Sumiko Inoue; Shohab Youssefian; Akio Koizumi
Journal:  BMC Med Genomics       Date:  2021-07-27       Impact factor: 3.063
  2 in total

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