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 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 .

Diseases
Validation

Diseases presenting "cognitive impairment" symptom

22q11.2 deletion syndrome

cadasil

canavan disease

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

locked-in syndrome

phenylketonuria

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

This symptom has already been validated