A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome
نویسندگان
چکیده
Triple A Syndrome is an autosomal recessive neurodegenerative disorder characterised by central and peripheral nervous system disturbances, autonomic dysfunction, alacrima, achalasia, and ACTH-resistant adrenal insufficiency (1). It results from mutations in the AAAS gene located on 12q13 which encodes the WD-repeat protein ALADIN (2) (ALacrima Achalasia aDrenal Insufficiency Neurologic disorder). We report a case of a 2 yr old boy with a genetically confirmed diagnosis of Triple A Syndrome resulting from a previously unreported mutation of the AAAS gene.
منابع مشابه
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report
BACKGROUND Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13. CASE PRESENTATION We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features,...
متن کاملProgeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness. The cardinal clinical findings were growth retardation, subcutaneous fat loss, skin dryness and wrinkling, scattered focal sclerodermoid-like changes, promin...
متن کاملMSX1 Mutation in Witkop Syndrome; A Case Report
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...
متن کاملRepetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous stop-codon mutation on the WFS1 gene. This special type of mutat...
متن کاملNovel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
متن کامل