Unknown

Dataset Information

0

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.

SUBMITTER: Yun KW 

PROVIDER: S-EPMC3012841 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea.

Yun Ki Wook KW   Chae Soo Ahn SA   Lee Jung Ju JJ   Yun Sin Weon SW   Yoo Byoung Hoon BH   Lim In Seok IS   Choi Eung Sang ES   Lee Mi-Kyung MK  

Journal of Korean medical science 20101222 1

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  ...[more]

Similar Datasets

Unknown Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
| S-EPMC7965407 | biostudies-literature
Unknown Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
| S-EPMC5345252 | biostudies-literature
Transcriptomics Gene expression profile of peripheral blood mononuclear cells in the X-linked alpha thalassemia mental retardation (ATRX) syndrome
2010-12-31 | E-GEOD-22028 | biostudies-arrayexpress
Unknown Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.
| S-EPMC2915949 | biostudies-literature
Unknown Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6.
| S-EPMC6068083 | biostudies-literature
Transcriptomics Gene expression profile of peripheral blood mononuclear cells in the X-linked alpha thalassemia mental retardation (ATRX) syndrome
2010-12-31 | GSE22028 | GEO
Unknown ?-Thalassemia, mental retardation, and myelodysplastic syndrome.
| S-EPMC3475406 | biostudies-literature
Unknown Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.
| S-EPMC1914575 | biostudies-other
Unknown Expression and prognostic impact of alpha thalassemia/mental retardation X-linked and death domain-associated protein in human lung cancer.
| S-EPMC6708616 | biostudies-literature
Unknown Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
| S-EPMC1538574 | biostudies-literature