Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A).
A mild type of autosomal recessive, non-syndromic mental retardation (NSMR) is linked to loci on chromosome 3p. This report delimits the MRT2A minimal critical region to 4.2 Mb between loci D3S3630 and D3S1304. This interval contains nine genes (IL5RA, TRNT1, LRRN1, SETMAR, SUMF1, ITPR1, BHLHB2, EDEM, and MRPS36P1). The results suggest that a mutation does not exist in these genes and that an unknown transcript in the region contributes to the cognitive deficits in NSMR.
Higgins
J J
JJ
Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute, 279 Main Street, New Paltz, NY 12561, USA. jhiggins@fpinstitute.org
Pucilowska
J
J
Lombardi
R Q
RQ
Rooney
J P
JP
D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D020451:Contig Mapping; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree