UBE2A-related X-linked intellectual disability
نویسندگان
چکیده
منابع مشابه
Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes
X-linked Intellectual Disability (XLID) is a group of genetically heterogeneous disorders caused by mutations in genes on the X chromosome. Deleterious mutations in ~10% of X chromosome genes are implicated in causing XLID disorders in ~50% of known and suspected XLID families. The remaining XLID genes are expected to be rare and even private to individual families. To systematically identify t...
متن کاملMicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID, and Fragile X syndrome
Intellectual disability (ID) is one of the many features manifested in various genetic syndromes leading to deficits in cognitive function among affected individuals. ID is a feature affected by polygenes and multiple environmental factors. It leads to a broad spectrum of affected clinical and behavioral characteristics among patients. Until now, the causative mechanism of ID is unknown and the...
متن کاملFragile X and X-linked intellectual disability: four decades of discovery.
X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. Over 150 syndromes, the most common of which is the fragile X syndrome, have been described. A large number of families with nonsyndromal XLID, 95 of which have been regionally mapped, have been described as well. Mutations in 102 X-linked genes have been associated with 81 of these XLID syndromes a...
متن کاملMutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
The prevalence of intellectual disability is around 3%; however, the etiology of the disease remains unclear in most cases. We identified a series of patients with X-linked intellectual disability presenting mutations in the Rad6a (Ube2a) gene, which encodes for an E2 ubiquitin-conjugating enzyme. Drosophila deficient for dRad6 display defective synaptic function as a consequence of mitochondri...
متن کاملMutual associations between intellectual disability and epilepsy-related psychiatry disability
Epilepsy is the third-leading cause of psychiatry disability in China, and intellectual disability (ID) is also 1 major type of disabilities in China. This study estimates the prevalence of comorbidities with ID and epilepsy-related psychiatry disability (EPD) and examines mutual associations within ID and EPD.Data were taken from the Second China National Sample Survey on Disability, which was...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical Dysmorphology
سال: 2019
ISSN: 0962-8827
DOI: 10.1097/mcd.0000000000000242