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Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation
Author(s) -
RudnikSchöneborn Sabine,
Takahashi Tsutomu,
Busse Sabine,
Schmidt Thorsten,
Senderek Jan,
Eggermann Thomas,
Zerres Klaus
Publication year - 2010
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.33387
Subject(s) - brachydactyly , missense mutation , synostosis , craniofacial , craniosynostosis , phenotype , noggin , genetics , medicine , biology , endocrinology , short stature , gene , bone morphogenetic protein
We report on a father and son with facioaudiosymphalangism syndrome, an alternative designation for multiple synostoses syndrome, type I. This syndrome includes synostosis, brachydactyly, craniofacial dysmorphic features, stapes fixation, hyperopia, and growth retardation. In contrast to the typical presentation, the height of the 10‐year‐old son was above the 97th centile from the age of 3.5 years and he had markers of an activated bone metabolism. The father and son had a novel heterozygous missense mutation c.696C > G, p.Cys232Trp, in the NOG gene. While not yet described in human NOG ‐related disorders, there is experimental evidence that suppression of noggin might accelerate osteogenesis, which could explain the phenotype in the family reported here. © 2010 Wiley‐Liss, Inc.