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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Intellectual Disability
X-Linked Genes
Chromosome Mapping
Mentally Disabled Persons
Microsatellite Repeats
Genes
Chromosomes

Cite this

Uyguner, Oya ; Kayserili, H. ; Li, Y. ; Karaman, B. ; Nürnberg, G. ; Hennies, H. C. ; Becker, C. ; Nürnberg, P. ; Başaran, S. ; Apak, M. Y. ; Wollnik, B. / A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. In: Clinical Genetics. 2007 ; Vol. 71, No. 3. pp. 212-219.
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Uyguner, O, Kayserili, H, Li, Y, Karaman, B, Nürnberg, G, Hennies, HC, Becker, C, Nürnberg, P, Başaran, S, Apak, MY & Wollnik, B 2007, 'A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3', Clinical Genetics, vol. 71, no. 3, pp. 212-219. https://doi.org/10.1111/j.1399-0004.2007.00762.x

A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. / Uyguner, Oya; Kayserili, H.; Li, Y.; Karaman, B.; Nürnberg, G.; Hennies, H. C.; Becker, C.; Nürnberg, P.; Başaran, S.; Apak, M. Y.; Wollnik, B.

In: Clinical Genetics, Vol. 71, No. 3, 01.03.2007, p. 212-219.

Research output: Contribution to journalArticle

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