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Severe manifestations of hand‐foot‐genital syndrome associated with a novel HOXA13 mutation
Author(s) -
Imagawa Eri,
Kayserili Hülya,
Nishimura Gen,
Nakashima Mitsuko,
Tsurusaki Yoshinori,
Saitsu Hirotomo,
Ikegawa Shiro,
Matsumoto Naomichi,
Miyake Noriko
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36648
Subject(s) - phalanx , foot (prosody) , exome sequencing , medicine , ectrodactyly , sex organ , differential diagnosis , hand deformity , dermatology , mutation , anatomy , genetics , biology , gene , pathology , philosophy , linguistics , ectodermal dysplasia
We report on a girl with absent nails, short/absent distal phalanges of the second to fifth fingers and toes, short thumbs, absent halluces, and carpo‐tarsal coalition who also had genitourinary malformations. Trio‐based whole exome sequencing identified a novel de novo mutation (c.1102A>T, p.Ile368Phe) in the HOXA13 gene. Heterozygous HOXA13 mutations have been previously reported in hand‐foot‐genital syndrome and Guttmacher syndrome, which are variably associated with small nails, short distal and middle phalanges, short thumbs and halluces, but not absent nails. Considering the molecular data, the phenotype in the present patient was defined as the severe end of hand‐foot‐genital and Guttmacher syndrome spectrum. Our observation expands the clinical spectrum caused by heterozygous HOXA13 mutations and reinforces the difficulty of differential diagnosis on clinical grounds for the disorders with short distal phalanges, short thumbs, and short halluces. © 2014 Wiley Periodicals, Inc.