Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies Hc, Becker C, Nürnberg P, Başaran S, Apak M Y, Wollnik B
Istanbul Medical Faculty, Medical Genetics Department, Istanbul University, Istanbul, Turkey.
Clin Genet. 2007 Mar;71(3):212-9. doi: 10.1111/j.1399-0004.2007.00762.x.
Autosomal recessive inheritance of non-syndromic mental retardation (ARNSMR) may account for approximately 25% of all patients with non-specific mental retardation (NSMR). Although many X-linked genes have been identified as a cause of NSMR, only three autosomal genes are known to cause ARNSMR. We present here a large consanguineous Turkish family with four mentally retarded individuals from different branches of the family. Clinical tests showed cognitive impairment but no neurological, skeletal, and biochemical involvements. Genome-wide mapping using Human Mapping 10K Array showed a single positive locus with a parametric LOD score of 4.92 in a region on chromosome 1p21.1-p13.3. Further analyses using polymorphic microsatellite markers defined a 6.6-Mb critical region containing approximately 130 known genes. This locus is the fourth one linked to ARNSMR.
非综合征性智力障碍（ARNSMR）的常染色体隐性遗传可能占所有非特异性智力障碍（NSMR）患者的约25%。尽管许多X连锁基因已被确定为NSMR的病因，但已知只有三个常染色体基因会导致ARNSMR。我们在此报告一个来自土耳其的近亲大家族，家族中不同分支有四名智力障碍个体。临床测试显示有认知障碍，但无神经、骨骼和生化方面的受累情况。使用人类10K基因分型芯片进行全基因组定位，在1号染色体1p21.1 - p13.3区域发现了一个单一的阳性位点，参数化对数优势（LOD）分数为4.92。使用多态性微卫星标记进行的进一步分析确定了一个6.6兆碱基的关键区域，其中包含约130个已知基因。该位点是与ARNSMR相关的第四个位点。
