Alopecia-Mental Retardation Syndrome 3

For a discussion of genetic heterogeneity of alopecia-mental retardation syndrome, see APMR1 (203650).

Clinical Features

Wali et al. (2007) reported a consanguineous Pakistani family with autosomal recessive mental retardation associated with generalized alopecia. Affected individuals had complete absence of scalp hair at birth and showed lack of eyebrows, eyelashes, and axillary and pubic hair. Teeth, nails, sweating, and hearing were normal. All affected individuals were severely mentally retarded (IQ from 25 to 30) and had behavioral issues. Heterozygous carriers had normal hair and were unaffected.

Mapping

By genomewide linkage analysis of a Pakistani family with autosomal recessive alopecia and mental retardation, Wali et al. (2007) identified a locus, which they termed APMR3, on chromosome 18q11.2-q12.2 (maximum 2-point lod score of 3.03 with D18S1102). Multipoint linkage analysis resulted in maximum lod score of 4.03 with several markers in the candidate region. The size of the candidate region was 10.9 cM (12.7 Mb) between D18S866 and D18S811. Sequence analysis of 9 candidate genes in this interval did not reveal any pathogenic mutations.