Verhoeven W M A, Egger J I M, Hoogeboom A J M
Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.
Genet Couns. 2012;23(2):157-67.
Aarskog-Scott syndrome [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by short stature, craniofacial dysmorphisms, brachydactyly and urogenital abnormalities. The level of intelligence shows a great variability and no specific behavioural phenotype has been described so far. In about 20 percent ofAarskog families, a mutation in the FGD1 gene located in Xp11.21 can be identified. In the present study, four affected males from the fourth generation of a large Dutch family (published in 1983 by Van de Vooren et al. (41)) are described. A novel FGD1 missense mutation (R402W) at position 1204 (1204C>T) was demonstrated. In the patients, the level of intelligence varied between normal and severely disabled. Their behavioural profile showed, among others, elements of attention deficit hyperactivity disorder, primarily reflected by impaired executive attentional processes that may be sensitive to systematic training.
阿斯克格-斯科特综合征[OMIM 100050]是一种主要为X连锁的疾病，其表型特征为身材矮小、颅面畸形、短指畸形和泌尿生殖系统异常。智力水平差异很大，目前尚未描述出特定的行为表型。在约20%的阿斯克格家族中，可鉴定出位于Xp11.21的FGD1基因突变。在本研究中，描述了来自一个荷兰大家庭（1983年由范德沃伦等人发表(41)）第四代的4名患病男性。证实了位于1204位（1204C>T）的一种新的FGD1错义突变（R402W）。在这些患者中，智力水平在正常和严重残疾之间变化。他们的行为特征显示，除其他外，有注意缺陷多动障碍的成分，主要表现为执行性注意力过程受损，这可能对系统训练敏感。
