An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17

Cognitive impairment (CI) is one of the most challenging referrals to the clinical genetics service. The different algorithms proposed to assist in the molecular diagnosis of CI rest largely on the distinction between syndromic and non-syndromic forms. We have identified what appears to be a novel syndromic form of CI, the variable phenotype of which comprises severe CI, hirsutism, dysmorphic facies and skeletal abnormalities, and have mapped it to a single locus on chromosome 17q21.31-17q22 spanning 12.2 Mb. Two candidate genes, HOXB6 and PPP1R9B were sequenced but no pathogenic alterations were identified. This report adds to the growing list of autosomal recessive syndromic CI conditions and defines a linkage interval harboring a gene which probably plays a vital role in brain development.