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A new locus for autosomal recessive non‐syndromic mental retardation maps to 1p21.1–p13.3
Author(s) -
Uyguner O,
Kayserili H,
Li Y,
Karaman B,
Nürnberg G,
Hennies HC,
Becker C,
Nürnberg P,
Başaran S,
Apak MY,
Wollnik B
Publication year - 2007
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00762.x
Subject(s) - locus (genetics) , genetics , lod score , biology , gene , microsatellite , gene mapping , chromosome , allele
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.