Split-hand/split-foot malformation with paternal mutation in the p63 gene.
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.
Witters
I
I
Department of Obstetrics and Gynecology, University of Leuven, Leuven, Belgium.
Van Bokhoven
H
H
Goossens
A
A
Van Assche
F A
FA
Fryns
J P
JP
D000328:Adult; D002893:Chromosomes, Human, Pair 3; D004268:DNA-Binding Proteins; D005220:Fathers; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D005865:Gestational Age; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D020125:Mutation, Missense; D010750:Phosphoproteins / Q000235:genetics*; D011247:Pregnancy; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D016216:Ultrasonography, Prenatal
C081876:CKAP4 protein, human; D004268:DNA-Binding Proteins; D008565:Membrane Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins