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

Oya Uyguner, H. Kayserili, Y. Li, B. Karaman, G. Nürnberg, H. C. Hennies, C. Becker, P. Nürnberg, S. Başaran, M. Y. Apak, B. Wollnik

Research output: Contribution to journalArticle

18 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)212-219
Number of pages8
JournalClinical Genetics
Volume71
Issue number3
DOIs
Publication statusPublished - 1 Mar 2007
Externally publishedYes

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