title: The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea.
abstract: Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclusions in red blood cells supported the diagnosis and genetic studies confirmed it. Mutation analysis for our patient showed a point mutation of thymine to cytosine on the 9th exon in the ATRX gene, indicating that Trp(C), the 220th amino acid, was replaced by Ser(R). Furthermore, we investigated the same mutation in family members, and his mother and two sisters were found to be carriers.
authors.affiliation: Department of Pediatrics, Chung-Ang University College of Medicine, Seoul, Korea.
authors.forename: Ki Wook
authors.initials: KW
authors.lastname: Yun
authors.forename: Soo Ahn
authors.initials: SA
authors.lastname: Chae
authors.forename: Jung Ju
authors.initials: JJ
authors.lastname: Lee
authors.forename: Sin Weon
authors.initials: SW
authors.lastname: Yun
authors.forename: Byoung Hoon
authors.initials: BH
authors.lastname: Yoo
authors.forename: In Seok
authors.initials: IS
authors.lastname: Lim
authors.forename: Eung Sang
authors.initials: ES
authors.lastname: Choi
authors.forename: Mi-Kyung
authors.initials: MK
authors.lastname: Lee
mesh_terms: D019943:Amino Acid Substitution; D057215:Body Dysmorphic Disorders / Q000150:complications; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000150:complications; D005091:Exons; D006447:Hemoglobin H / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D038901:X-Linked Intellectual Disability / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D017354:Point Mutation; D056910:Republic of Korea; D017085:alpha-Thalassemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics
chemical_list: D006447:Hemoglobin H