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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
Abstract 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.