Alopecia-Mental Retardation Syndrome 1

Alopecia-mental retardation syndrome 1 (APMR) is a very rare autosomal recessive inherited disorder in which affected individuals exhibit scalp hair loss, absence of eyebrows, eyelashes, axillary and pubic hair, and mild to severe mental retardation (Ansar M et al. (2016). The syndrome is caused by a mutation in the ITGB6 gene.

Alopecia mental retardation syndrome-1 (APMR1) caused by a homozygous mutation in the AHSG gene (138680) on chromosome 3q27. Such a family has been reported previously.

1. Ansar M et al. (2016) Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet 24:1223-1227.
2. Wali A et al (2007) Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2. Ann Hum Genet 71: 570-577.