Alopecia-Mental Retardation Syndrome 2

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

Clinical Features

Wali et al. (2006) reported a large consanguineous Pakistani family in which 3 males and 2 females had total alopecia and mild to moderate mental retardation (IQs ranging from 53 to 61). Teeth, nails, sweating, and hearing were all normal.

Mapping

By genomewide linkage analysis and fine mapping, Wali et al. (2006) identified a 9.6-cM (5.6-Mb) candidate disease locus, termed APMR2, on chromosome 3q26.2-q26.31 between markers D3S1564 and D3S2427 (maximum multipoint lod score of 4.57 with several markers). Further analysis showed that the APMR2 locus is distinct from the nearby APMR1 locus on 3q26.33-q27.3.