Split‐hand/split‐foot malformation with paternal mutation in the p63 gene | Zendy

Witters Ingrid | Zendy; Van Bokhoven Hans | Zendy; Goossens A. | Zendy; Van Assche FransAndré | Zendy; Fryns JeanPierre | Zendy

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Split‐hand/split‐foot malformation with paternal mutation in the p63 gene

Author(s) -

Witters Ingrid,

Van Bokhoven Hans,

Goossens A.,

Van Assche FransAndré,

Fryns JeanPierre

Publication year - 2001

Publication title -

prenatal diagnosis

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.956

H-Index - 97

eISSN - 1097-0223

pISSN - 0197-3851

DOI - 10.1002/pd.181

Subject(s) - syndactyly , missense mutation , ectrodactyly , foot (prosody) , fetus , dysostosis , mutation , clubfoot , foot deformity , anatomy , deformity , prenatal diagnosis , genetics , medicine , gestation , biology , surgery , congenital disease , gene , pregnancy , ectodermal dysplasia , linguistics , philosophy

We report the prenatal diagnosis at 16 weeks' gestation of bilateral split‐hand/split‐foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I–II; cleft II–III; left cutaneous syndactyly III–IV). Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A→G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A→G (predicting amino acid substitution K194E) in a family with SHSFM. Copyright © 2001 John Wiley & Sons, Ltd.

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