A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.
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.
Uyguner
O
O
Istanbul Medical Faculty, Medical Genetics Department, Istanbul University, Istanbul, Turkey. o.uyguner@istanbul.edu.tr
Kayserili
H
H
Li
Y
Y
Karaman
B
B
Nürnberg
G
G
Hennies
Hc
H
Becker
C
C
Nürnberg
P
P
Başaran
S
S
Apak
M Y
MY
Wollnik
B
B
D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree