A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.

Uyguner O., Kayserili H., Li Y., Karaman B., Nuernberg G., Hennies H. C., ...More

Clinical genetics, vol.71, no.3, pp.212-9, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 71 Issue: 3
  • Publication Date: 2007
  • Doi Number: 10.1111/j.1399-0004.2007.00762.x
  • Journal Name: Clinical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.212-9
  • Keywords: mental retardation (MR), syndromic mental retardation (MRS), non-syndromic or non-specific mental retardation (NSMR), X-linked mental retardation (MRX), autosomal recessive non-syndromic mental retardation (ARNSMR), autosomal recessive non-specific mental retardation loci (MRT), LINKAGE ANALYSIS, GENE, REVEALS, FAMILY, MUTATION, DOMAINS, ALX3
  • Istanbul University Affiliated: Yes


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.