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

Uyguner, O., Kayserili, H., Li, Y., Karaman, B., Nürnberg, G., Hennies, Hans C., Becker, C., Nürnberg, P., Basaran, S., Apak, M.Y. and Wollnik, B. (2007) A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. Clinical Genetics, 71 (3). pp. 212-219. ISSN 0009-9163

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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.

Item Type: Article
Additional Information: Unmapped bibliographic data: ST - A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3 [Field not mapped to EPrints] LB - 8 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]
Uncontrolled Keywords: Chromosome Mapping
Subjects: Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Related URLs:
Depositing User: Hans Hennies
Date Deposited: 14 Jul 2016 15:39
Last Modified: 29 Jul 2016 14:38
URI: http://eprints.hud.ac.uk/id/eprint/28805

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