Non-syndromic mental retardation Biology essay
We also identified a missense mutation in another family with nonsyndromic mental retardation. Three mutations lead to the introduction of a premature termination codon and subsequent NMD of. To gain insight into the molecular mechanisms contributing to the frequent occurrence of syndromic or non-syndromic dental agenesis and OFCs, systematic reviews have been published providing phenotype and genotype descriptions of genomic loci gene candidates underlying the co-occurrence of the combined , Definition and prevalence of intellectual disability. Intellectual disability ID is a common neurodevelopmental disorder characterized by intelligence impairment. IQ, or lower. Patients with nonspecific X-related mental retardation were analyzed with full coverage, Several studies have shown this. INTRODUCTION. Mental disability MR is one of the most common disabilities in children, -3 of the population 1.2. The majority of MR cases involve isolated MR without other associated abnormalities, a condition called nonsyndromic mental retardation NSMR. The genetic etiology of NSMR was: In a large retrospective review, patients had the mean age at last follow-up. and the average age. 45 of the children had one or more abnormal speech, cognitive, and behavioral outcomes or a documented learning disability, special education placement, or identified behavioral problem, and had nonsyndromic mental retardation NSMR is the diagnosis of exclusion in mentally retarded individuals without additional deviations . We recently identified a protein truncating mutation. This study expands the mutational spectrum of NONO, further extends hypoplastic left heart syndrome to the phenotype of MRXS, and highlights the importance of intronic sequence analysis and the need for integrative functional studies in the interpretation of sequence variants. Background The NONO gene is located on Introduction. Mutations resulting in X-linked intellectual disability XLID are described in gene table S1, available online. Work was done over a one-year period during which the term X-linked mental retardation came into widespread use. However, we will use the ID of the intellectual disability, which comes up as the preference. Non-syndromic mental retardation NSMR is the diagnosis of exclusion in mentally retarded individuals who do not have dimorphic features. was not included due to insufficient phenotypic and biological data. Extensive clinical, biochemical, imaging and genetic studies have been performed. Congenital hearing loss is a disease, live birth. For many children born with hearing loss, it is an isolated finding known as nonsyndromic hearing loss. Alternatively, syndromic hearing loss occurs if the patient has hearing loss in addition to other medical abnormalities. Among children with genetic abnormalities, MR with intellectual disability occurs worldwide and is a frequent cause of severe disability. Significant excess of MR in the offspring of consanguineous matings, as well. Methods: We identified a consanguineous family affected by nonsyndromic autosomal recessive mental retardation. The phenotype consisted of individuals from two branches of the family. This website requires cookies and the,