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Updated: Aug 14, 2026

Electrophysiological Assessment of Murine Atria with High-Resolution Optical Mapping
Published on: February 22, 2018
A novel splicing mutation of the ATRX gene in ATR-X syndrome
Takahito Wada1, Masae Sakakibara, Yoshimitsu Fukushima
1Department of Medical Genetics, Shinshu University School of Medicine, Asahi 3-1-1, Matsumoto, 390-8621, Japan. twada@sch.md.shinshu-u.ac.jp
Abstract:
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X, MIM#301040) is an X-linked recessive condition affecting males. ATR-X is characterized by severe mental retardation, mild HbH disease, dysmorphic facies, and genital and skeletal abnormalities. ATR-X is caused by mutations in the ATRX gene. Most mutations affect two functionally important domains, the ADD domain and the helicase domain. Here, we report on two brothers with the ATR-X phenotype without HbH disease; both had a mutation in the 5' upstream region of the ADD domain of the ATRX gene. This mutation was a G to T nucleotide substitution at the 3' end of exon 5 and resulted in splicing out of exons 5 and 6. Analysis of cDNA structure may clarify genotype-phenotype correlations in ATR-X because splicing mutation could be detectable only by cDNA analysis.
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