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Familial gigantism caused by an NSD1 mutation
Author(s) -
van Haelst Mieke M.,
Hoogeboom Jeannette J.M.,
Baujat Genevieve,
Brüggenwirth Hennie T.,
Van de Laar Ingrid,
Coleman Kim,
Rahman Nazneen,
Niermeijer Martinus F.,
Drop Sten L.S.,
Scambler Peter J.
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.30973
Subject(s) - sotos syndrome , haploinsufficiency , macrocephaly , gigantism , bone age , mutation , mandible (arthropod mouthpart) , medicine , pediatrics , endocrinology , genetics , biology , phenotype , zoology , genus , gene
A three‐generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G → A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. The overgrowth condition (MIM 117550) is characterized by facial anomalies, macrocephaly, advanced bone age, and learning disabilities. Manifestations in the present family include dramatically increased height, weight, and head circumference together with a long face, large mandible, and large ears, but mental deficiency was absent. © 2005 Wiley‐Liss, Inc.