Baujat Geneviève, Rio Marlène, Rossignol Sylvie, Sanlaville Damien, Lyonnet Stanislas, Le Merrer Martine, Munnich Arnold, Gicquel Christine, Colleaux Laurence, Cormier-Daire Valérie
INSERM U393, Département de Génétique Médicale, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 [corrected] Paris, France.
Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):4-11. doi: 10.1002/ajmg.c.30060.
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.
在此，我们报告了75例生长过度和智力发育迟缓患者的临床及分子分析情况，其中包括45例先前已报道的病例[里约等人，2003年；鲍雅等人，2004年]。区分出两组：第一组对应具有可识别的生长过度综合征（索托斯综合征（SS）、韦弗综合征（WS）、贝克威思-维德曼综合征、辛普森-戈拉比-贝梅尔综合征（SGBS）和del(22)(qter)综合征）的患者（60例），第二组对应未分类病例（15例患者）。我们研究了NSD1和GPC3的缺失或突变、11p15异常以及22qter缺失情况。令人惊讶的是，在第一组中，两名索托斯综合征患者存在11p15异常，两名贝克威思-维德曼综合征患者存在NSD1畸变。在第二组中，鉴定出两例del(22)(qter)，但未检测到NSD1、11p15或GPC3异常。这些结果强调了生长过度病症中的临床及分子重叠情况。
