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

Daphna Marom, Adi Albin, Charles Schwartz, Adi Har-Zahav, Rachel Straussberg, Frank Bartel, Efrat Birk, Dov Inbar, Lina Basel-Vanagaite*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

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 16.4Mb 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.

Original languageEnglish
Pages (from-to)1959-1963
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number8
DOIs
StatePublished - Aug 2011

Keywords

  • Achalasia
  • Adrenal insufficiency
  • Alacrima
  • Intellectual disability

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