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Clinical and molecular overlap in overgrowth syndromes
Author(s) -
Baujat Geneviève,
Rio Marlène,
Rossignol Sylvie,
Sanlaville Damien,
Lyonnet Stanislas,
Merrer Martine Le,
Munnich Arnold,
Gicquel Christine,
Colleaux Laurence,
CormierDaire Valérie
Publication year - 2005
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30060
Subject(s) - sotos syndrome , gigantism , beckwith–wiedemann syndrome , gastroenterology , medicine , genetics , pediatrics , biology , gene , gene expression , dna methylation
Here, we report the clinical and molecular analysis of 75 patients with overgrowth and mental retardation, including 45 previously reported cases [Rio et al., 2003; Baujat et al., 2004]. Two groups are distinguished: group I corresponding to patients with recognizable overgrowth syndromes (Sotos syndrome (SS), Weaver syndrome (WS), Beckwith–Wiedemann syndrome, Simpson–Golabi–Behmel syndrome (SGBS), and del(22)(qter) syndrome) (60 cases) and group II corresponding to unclassified cases (15 patients). We investigated NSD1 and GPC3 deletions or mutations, 11p15 abnormalities, and 22qter deletions. Surprisingly, in Group I, two SS patients had 11p15 abnormalities and two patients with Beckwith–Wiedemann syndrome had NSD1 aberrations. In group II, two cases of del(22)(qter) were identified but neither NSD1 , 11p15, nor GPC3 abnormalities were detected. These results emphasize the clinical and molecular overlap in overgrowth conditions. © 2005 Wiley‐Liss, Inc.