Intellectual disability update Jan 2018

Gene: NDST1

Comment when marking as ready: Sufficient cases, appropriate phenotype

Created: 5 Mar 2018, 12:27 p.m.

Comment on mode of pathogenicity: All reported pathogenic variants to date have been missense; occurring at highly conserved residues in the sulfotransferase domain, predicted to change the substrate-binding domain and/or to disrupt the 3-dimensional structure of the enzyme.

Created: 5 Mar 2018, 12:26 p.m.

Comment on list classification: Changed rating from Red to Green as there is enough evidence in the literature to support intellectual disability phenotype.

Created: 15 Feb 2018, 4:29 p.m.

Comment on phenotypes: Mental retardation, autosomal recessive 46 (MRT46) is a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT46 manifestations include delayed psychomotor development apparent from infancy or early childhood, delayed or absent expressive speech, hypotonia, and therapy-responsive seizures in some patients. Behavioral abnormalities are variable and include aggression, self-injurious behavior, and sleep disturbances.

Created: 15 Feb 2018, 4:26 p.m.

Comment on mode of inheritance: from OMIM The transmission pattern of MRT46 in the families reported by Reuter et al., 2014 (PMID:25125150) was consistent with autosomal recessive inheritance.

Created: 15 Feb 2018, 4:22 p.m.

Comment on publications: Reuter et al., 2014 (PMID:25125150) reported 8 patients from 4 unrelated families with nonsyndromic intellectual disability. Two of the families had previously been reported by Najmabadi et al., 2011 (PMID:21937992)

Created: 15 Feb 2018, 4:20 p.m.