X-linked Mental Retardation With Alacrima and Achalasia-Triple A Syndrome or A New Syndrome?

作者：Marom Daphna; Albin Adi; Schwartz Charles; Har Zahav Adi; Straus**erg Rachel; Bartel Frank; Birk Efrat; Inbar Dov; Basel Vanagaite Lina^*

来源：American Journal of Medical Genetics, Part A, 2011, 155A(8): 1959-1963.

DOI：10.1002/ajmg.a.34121

• adrenal insufficiency
• achalasia
• alacrima
• intellectual disability

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 rs2748314 and rs5906782 on Xp11.23-p21, 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.

• 出版日期2011-8