A new locus for autosomal recessive non‐syndromic mental retardation maps to 1p21.1–p13.3
- 12 January 2007
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 71 (3) , 212-219
- https://doi.org/10.1111/j.1399-0004.2007.00762.x
Abstract
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.Keywords
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