Mental Retardation - Genetics
Research News and Information

Monday, November 23, 2009

Calcium/calmodulin-dependent serine protein kinase and mental retardation.

29 Sep 2009 Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and ... Read more...

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

20 Sep 2009 OBJECTIVE: To determine the spectrum of clinical, neuropsychological, and neuroradiologic features in patients with autosomal recessive primary microcephaly (MCPH) due to ASPM gene mutations. METHODS: ASPM was sequenced in 52 unrelated MCPH ... Read more...

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.

30 Aug 2009 Cohen syndrome is an autosomal recessive disorder that is characterized by mental retardation, facial dysmorphism, microcephaly, retinal dystrophy, truncal obesity, joint laxity and intermittent neutropenia. Mutations in the VPS13B (COH1) gene ... Read more...

Latest indexed articles for 'Mental Retardation - Genetics'

These are the very latest articles for this heading:

• Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. 30 Oct 2009
• Calcium/calmodulin-dependent serine protein kinase and mental retardation. 29 Sep 2009
• Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 20 Sep 2009
• Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. 30 Aug 2009
• Disparate diseases due to copycat copy number variations. 30 Aug 2009
• Clinical application of microarray-based molecular cytogenetics: an emerging new era of genomic medicine. 30 Aug 2009
• Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. 30 Aug 2009
• Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. 25 Aug 2009
• Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. 15 Aug 2009
• Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability. 13 Aug 2009
• INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 7 Aug 2009
• Mutations in PYCR1 cause cutis laxa with progeroid features. 31 Jul 2009
• 3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs. 30 Jul 2009
• Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. 30 Jul 2009
• POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. 26 Jul 2009
• Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease. 15 Jul 2009
• Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. 13 Jul 2009
• Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. 12 Jul 2009
• Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children. 30 Jun 2009
• Conceptualizing autism: the role for emergence. 29 Jun 2009

See a longer list of these articles.

Technical information about 'Mental Retardation'

Definition: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)

Descriptor UI: D008607

Alternative terms: Mental Retardation; Retardation, Mental; Idiocy; Deficiency, Mental; Deficiencies, Mental; Mental Deficiencies; Mental Deficiency; Mental Retardation, Psychosocial; Mental Retardations, Psychosocial; Psychosocial Mental Retardation; Psychosocial Mental Retardations; Retardation, Psychosocial Mental; Retardations, Psychosocial Mental;

Related Mesh Headings: Abnormalities, Multiple; Cockayne Syndrome; Congenital Hypothyroidism; Cri-du-Chat Syndrome; De Lange Syndrome; Down Syndrome; Education of Mentally Retarded; Fragile X Syndrome; Laurence-Moon Syndrome; Prader-Willi Syndrome; Rubinstein-Taybi Syndrome; Rett Syndrome; Angelman Syndrome; Williams Syndrome; Mentally Disabled Persons; Brain Diseases, Metabolic, Inborn; Bardet-Biedl Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C10.597.606.643; C23.888.592.604.646; F01.700.687; F03.550.600;

History Note: 1967(1963)

Technical Notes: use Cat C qualif; /rehabil permitted: do not equate with EDUCATION OF MENTALLY RETARDED