X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

[triple a syndrome]

We describe a consanguineous Israeli Arab kindred with five males in two interrelated families with intellectual disabilities , alacrima , achalasia , and mild autonomic dysfunction . Adrenal function is normal . Their phenotype is similar to the phenotype observed in autosomal recessive Triple A syndrome except for the presence of mental retardation in all affected individuals . The pedigree is compatible with either X-linked or autosomal recessive inheritance . Sequencing of the AAAS gene causing autosomal recessive Triple A syndrome did not reveal mutations . Genotyping of affected family members identified a 16 .4 â€‰Mb continuous segment of identical alleles shared by the patients between markers rs 2748314 and rs 5906782 on Xp 11 .23 -p 21 , establishing linkage to chromosome X . This study further confirms genetic heterogeneity in Triple A syndrome and points to a clinically different subtype including significant cognitive impairment .