Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Am J Med Genet A. 2011 Dec;155A(12):2910-5. doi: 10.1002/ajmg.a.34292. Epub 2011 Oct 14.
We present a newly recognized, likely autosomal recessive, pleiotropic disorder seen in four individuals (three siblings and their nephew) from a consanguineous family of Pakistani origin. The condition is characterized by hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, moderate learning disability, and distinctive facial dysmorphic features. Autozygosity mapping using SNP array genotyping defined a single, large autozygous region of 13.1 Mb on chromosome 3p21 common to the affected individuals. The critical region contains 227 genes and initial sequence analysis of a functional candidate gene has not identified causative mutations.
我们介绍了一种新发现的、可能为常染色体隐性遗传的多效性疾病，该疾病见于来自巴基斯坦一个近亲家庭的四名个体（三个兄弟姐妹及其侄子）。该病症的特征为促性腺激素低下性性腺功能减退症、严重的小头畸形、感觉神经性耳聋、中度学习障碍和独特的面部畸形特征。使用 SNP 芯片基因分型的自交系作图定义了受影响个体共有的染色体 3p21 上的 13.1Mb 单一大型纯合区域。该关键区域包含 227 个基因，对一个功能候选基因的初步序列分析尚未发现致病突变。
