title: Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene.
abstract: We report on the first Chinese patient with triple-A syndrome, who presented at 22 months with status epilepticus secondary to hyponatraemia and hypoglycaemia. Subsequent endocrine investigations confirmed primary adrenal insufficiency and aldosterone deficiency. In the presence of achalasia and alacrima, this patient satisfies the diagnostic criteria of triple-A syndrome. Further molecular testing detected compound heterozygous mutations in the AAAS gene: a c.580C --> T transition in exon 7 and a c.771delG single nucleotide deletion in exon 8. Testing of parents and brother confirmed their heterozygous carrier status.
authors.affiliation: Department of Paediatrics, Kwong Wah Hospital, 25 Waterloo Road, Kowloon, Hong Kong SAR, China. lamyy3@ha.org.hk
authors.forename: Y Y
authors.initials: YY
authors.lastname: Lam
authors.forename: Ivan F M
authors.initials: IF
authors.lastname: Lo
authors.forename: C C
authors.initials: CC
authors.lastname: Shek
authors.forename: Tony M F
authors.initials: TM
authors.lastname: Tong
authors.forename: D K K
authors.initials: DK
authors.lastname: Ng
authors.forename: T F
authors.initials: TF
authors.lastname: Tong
authors.forename: M S
authors.initials: MS
authors.lastname: Choi
authors.forename: Stephen T S
authors.initials: ST
authors.lastname: Lam
authors.forename: C S
authors.initials: CS
authors.lastname: Ho
mesh_terms: D000303:Adrenal Cortex Diseases / Q000150:complications; D000304:Adrenal Cortex Function Tests; D000450:Aldosterone / Q000172:deficiency; D002681:China; D004830:Epilepsy, Tonic-Clonic / Q000150:complications / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D007003:Hypoglycemia / Q000150:complications; D007010:Hyponatremia / Q000150:complications; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D013226:Status Epilepticus / Q000209:etiology; D013577:Syndrome
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D000450:Aldosterone