Völter Christiane, Martínez Ramón, Hagen Rudolf, Kress Wolfram
Department of Otorhinolaryngology, University of Goettingen, Robert Koch-Str. 40, 37075, Goettingen, Germany,
Eur J Pediatr. 2014 Oct;173(10):1373-6. doi: 10.1007/s00431-014-2317-3. Epub 2014 Apr 27.
Aarskog syndrome (AAS) is an X-linked human disease that affects the skeletal formation and embryonic morphogenesis and is caused by mutations in the FGD1 gene. Patients typically show distinctive skeletal and genital developmental abnormalities, but a broad spectrum of clinical phenotypes has been observed. We report here on the clinical and molecular analysis of a family that reveals a novel FGD1 mutation in a 9-year-old boy displaying extreme craniofacial dysplasia associated with attention deficit hyperactivity disorder. Sequencing of FGD1 revealed a novel mutation in exon 7 at position c.1468 C > T in the index patient, leading to a stop codon in the highly conserved RhoGEF gene domain. His mother and maternal grandmother were also found to be heterozygous for this FGD1 mutation.
Our results identify a novel mutation of FDG1 in a family with Aarskog syndrome and underscore the phenotypical variability of this condition.
Aarskog综合征（AAS）是一种X连锁的人类疾病，影响骨骼形成和胚胎形态发生，由FGD1基因突变引起。患者通常表现出独特的骨骼和生殖器发育异常，但已观察到广泛的临床表型。我们在此报告一个家庭的临床和分子分析，该家庭中一名9岁男孩显示出与注意力缺陷多动障碍相关的极端颅面发育异常，揭示了一种新的FGD1突变。对FGD1进行测序发现，索引患者外显子7中第c.1468位的C>T发生了新突变，导致高度保守的RhoGEF基因结构域中出现一个终止密码子。还发现他的母亲和外祖母对此FGD1突变呈杂合状态。
我们的结果在一个患有Aarskog综合征的家庭中鉴定出一种新的FDG1突变，并强调了这种疾病的表型变异性。
