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      A novel splicing mutation of the ATRX gene in ATR-X syndrome.

      Brain & development
      Adolescent, Adult, DNA Helicases, genetics, DNA Mutational Analysis, methods, Exons, Humans, Male, Mental Retardation, X-Linked, Mutation, Nuclear Proteins, RNA Splicing

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          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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          Author and article information

          Journal
          16376512
          10.1016/j.braindev.2005.09.005

          Chemistry
          Adolescent,Adult,DNA Helicases,genetics,DNA Mutational Analysis,methods,Exons,Humans,Male,Mental Retardation, X-Linked,Mutation,Nuclear Proteins,RNA Splicing

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