|
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms in the DLG3 gene is not associated with non-syndromic mental retardation in the Chinese Han population of Qin-Ba mountain.
|
21369957 |
2011 |
|
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage studies followed by mutational analysis of known X-chromosomal genes related to mental retardation (MRX genes) localized within defined genetic intervals represent a rational strategy to identify a genetic cause of the disorder.
|
21315190 |
2011 |
|
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel splice site mutation (IVS6-1G > A) in the disc-large homolog 3 (DLG3) gene, encoding the synapse-associated protein 102 (SAP102) in one out of 300 families with moderate to severe non-syndromic mental retardation.
|
19795139 |
2010 |
|
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multiplex XLMR pedigrees have been reported with only one mutated patient having autism and MR: different X-located MR genes have been shown to be involved (NLGN4, MECP2, OPHN1, ZNF674 and FRAXA) which does not suggest that they could be "autism genes".
|
19160128 |
2009 |
|
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in most of more than 20 known genes causing nonspecific form of X-linked MR (MRX) are very rare and may account for less than 0.5-1% of MR. Linkage studies in extended pedigrees followed by mutational analysis of known MRX genes in the linked interval are often the only way to identify a genetic cause of the disorder.
|
19012350 |
2008 |
|
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we identified a novel FTSJ1 mutation in an XLMR family through mutation screening of a cohort of 73 unrelated Japanese male probands with MR. Sequence analysis of the proband and his mother revealed a G > A substitution at the consensus for the donor splicing site in intron 8 (c.571 + 1G > A) of FTSJ1.
|
18081026 |
2008 |
|
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The XLMR bank is an innovative biological database that allows the collection of molecular and clinical data, combines descriptive and iconographic resources, and represents a fundamental tool for researchers in the field of mental retardation.
|
16983648 |
2007 |
|
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aberrations are associated with the phenotype in five patients (4.6%), based on the following criteria: de novo aberration; involvement of a known or candidate X-linked nonsyndromic(syndromic) MR (MRX(S)) gene; segregation with the disease in the family; absence in control individuals; and skewed X-inactivation in carrier females.
|
17546640 |
2007 |
|
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is the sixth edition of the catalogue of XLMR genes, ie X-linked genes whose malfunctioning causes mental retardation.
|
11313739 |
2001 |
|
Mental Retardation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Therefore, it is likely that one or more of these MRX genes, subject to X-inactivation, are lost from the ring X chromosome, and that reduced expression of the MRX gene(s) caused by random X-inactivation has resulted in mental retardation in the mother and daughter.
|
10766981 |
2000 |
|
Mental Retardation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The results imply that an MRX gene subject to X inactivation is present in a roughly 4 Mb region between DXS7182 and DAX-1, and that reduced expression of the normal MRX gene caused by random X inactivation results in MR in carrier females.
|
10204842 |
1999 |