TY - JOUR
T1 - A novel mutation in JARID1C gene associated with mental retardation
AU - Santos, Cristina
AU - Rodriguez-Revenga, Laia
AU - Madrigal, Irene
AU - Badenas, Celia
AU - Pineda, Merce
AU - Milá, Montserrat
N1 - Funding Information:
We thank the family for their cooperation and consent to publish this study and their photographs. This work has received financial support from GIRMOGEN (V2003REDG 03-98), REDGEN (V2003REDC 07), INERGEN (C03/05), PI050776, PI050159, and V2004-FS041126-0 financed by the ‘Fondo de Investigación Sanitaria’, Spain.
Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2006/5
Y1 - 2006/5
N2 - X-linked mental retardation (XLMR) is an extremely heterogeneous condition that account for 15-257% of all mentally retarded patients. The number of genes newly reported in relation with this condition has been rapidly increased in the past years. One of the latest is called Jumonji AT-rich interactive domain 1C (JARID1C). This gene 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 we describe the results obtained by screening JARID1C gene in 24 mentally retarded males with history of at least two affected males. Remarkably, we have found a novel missense mutation in exon 10 of the gene that results in a Serine-to-arginine change at amino-acid 451 (S451R). This nucleotide change appears to be restricted to mentally retarded patients, since it has not been detected in control samples. Familial analysis has confirmed the segregation of this mutation with mental retardation. Furthermore, sequence alignment analysis with the different members of the human JARID1 family and with homologous proteins of mouse and fruit fly has revealed that the affected amino acid is conserved. Our data highlights the importance of reporting mutations in this gene since it might support the recent findings that implicates JARID1C with XLMR.
AB - X-linked mental retardation (XLMR) is an extremely heterogeneous condition that account for 15-257% of all mentally retarded patients. The number of genes newly reported in relation with this condition has been rapidly increased in the past years. One of the latest is called Jumonji AT-rich interactive domain 1C (JARID1C). This gene 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 we describe the results obtained by screening JARID1C gene in 24 mentally retarded males with history of at least two affected males. Remarkably, we have found a novel missense mutation in exon 10 of the gene that results in a Serine-to-arginine change at amino-acid 451 (S451R). This nucleotide change appears to be restricted to mentally retarded patients, since it has not been detected in control samples. Familial analysis has confirmed the segregation of this mutation with mental retardation. Furthermore, sequence alignment analysis with the different members of the human JARID1 family and with homologous proteins of mouse and fruit fly has revealed that the affected amino acid is conserved. Our data highlights the importance of reporting mutations in this gene since it might support the recent findings that implicates JARID1C with XLMR.
KW - JARID1C gene
KW - Mutational screening
KW - Novel mutation
KW - X-linked mental retardation
UR - http://www.scopus.com/inward/record.url?scp=33646045352&partnerID=8YFLogxK
U2 - 10.1038/sj.ejhg.5201608
DO - 10.1038/sj.ejhg.5201608
M3 - Article
C2 - 16538222
AN - SCOPUS:33646045352
VL - 14
SP - 583
EP - 586
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 5
ER -