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A Novel Mutation In JARID1C Gene Associated With Mental Retardation

 
  April, 26 2006 9:43
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X-linked mental retardation (XLMR) is an extremely heterogeneous condition that account for 15–25% of all mentally retarded patients. The gene Jumonji AT-rich interactive domain 1C (JARID1C) encodes for a member of a recently discovered protein family that harbours DNA-binding motifs, suggesting a possible role in transcriptional regulation and in the modification of chromatin structure.

In this work, published in European Journal of Human Genetics (2006, Vol. 14, pp. 583–586), the authors (Santos, Rodriguez-Revenga et al.) describe the results obtained by screening JARID1C gene in 24 mentally retarded males with history of at least two affected males.

Familial analysis has confirmed the segregation of this mutation with mental retardation. Their data highlights the importance of reporting mutations in this gene since it might support the recent findings that implicates JARID1C with XLMR.

Correspondence:

Dr M Milà, Genetics Service, Hospital Clínic, C/Villarroel, 170 08036 Barcelona, Spain. E-mail: mmila@clinic.ub.es

Abstract available online.

(C) European Journal of Human Genetics.

Posted by: Tressie Dalaya.


Message posted by: Trevor M. D'Souza

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