home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
  HUM-MOLGEN -> Genetic News | search  

A Novel Mutation In JARID1C Gene Associated With Mental Retardation

  April, 26 2006 9:43
your information resource in human molecular genetics
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.


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

print this article mail this article
Latest News
Variants Associated with Pediatric Allergic Disorder

Mutations in PHF6 Found in T-Cell Leukemia

Genetic Risk Variant for Urinary Bladder Cancer

Antibody Has Therapeutic Effect on Mice with ALS

Regulating P53 Activity in Cancer Cells

Anti-RNA Therapy Counters Breast Cancer Spread

Mitochondrial DNA Diversity

The Power of RNA Sequencing

‘Pro-Ageing' Therapy for Cancer?

Niche Genetics Influence Leukaemia

Molecular Biology: Clinical Promise for RNA Interference

Chemoprevention Cocktail for Colon Cancer

more news ...

Generated by News Editor 2.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2023 HUM-MOLGEN. All rights reserved. Liability, Copyright and Imprint.