Association of an X-chromosome dodecamer insertional variant allele with mental retardation

  title={Association of an X-chromosome dodecamer insertional variant allele with mental retardation},
  author={Robert A Philibert and Bryan H. King and Stacy Winfield and E H Cook and Yi-Hsuan Lee and Barbara K Stubblefield and Patricia Damschroder-Williams and C Dea and Aarno V Palotie and C. Tengstrom and Barbara M. Martin and E I Ginns.},
  journal={Molecular Psychiatry},
Mental retardation is a prominent feature of many neurodevelopmental syndromes. In an attempt to identify genetic components of these illnesses, we isolated and sequenced a large number of human genomic cosmid inserts containing large trinucleotide repeats. One of these cosmids, Cos-4, maps to the X-chromosome and contains the sequence of a 7.3-kb mRNA. Initial polymorphism analysis across a region of repetitive DNA in this gene revealed a rare 12-bp exonic variation (<< 1% in non-iII males… CONTINUE READING


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