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Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation
Author(s) -
Debeer Philippe,
Huysmans Christel,
Van de Ven Wim J.M.,
Fryns JeanPierre,
Devriendt Koen
Publication year - 2005
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.30645
Subject(s) - missense mutation , anatomy , microstomia , buccal swab , medicine , mutation , biology , pathology , genetics , gene
We describe two siblings with carpal and tarsal synostoses associated with transverse deficiencies of the toes. Mutation analysis of the NOG gene revealed a double missense mutation in both boys resulting in Pro42Ala and Pro50Arg. The parents were clinically unaffected, and these two mutations were not detected in their white blood cells or buccal mucosa. This indicates the presence of gonadal mosaicism or a low level of somatic mosaicism in one of the parents. © 2005 Wiley‐Liss, Inc.