title: X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?
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 16.4 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.
authors: Pediatrics A, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors: Daphna
authors: D
authors: Marom
authors: Adi
authors: A
authors: Albin
authors: Charles
authors: C
authors: Schwartz
authors: Adi
authors: A
authors: Har-Zahav
authors: Rachel
authors: R
authors: Straussberg
authors: Frank
authors: F
authors: Bartel
authors: Efrat
authors: E
authors: Birk
authors: Dov
authors: D
authors: Inbar
authors: Lina
authors: L
authors: Basel-Vanagaite
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000309:Adrenal Insufficiency / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics; D055028:Comparative Genomic Hybridization; D003241:Consanguinity; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004931:Esophageal Achalasia / Q000235:genetics*; D056726:Genetic Association Studies; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins