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Article

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.

Genes - 31 Aug 2020

Khan Amjad, Miao Zhichao, Umair Muhammad, Ullah Amir, Alshabeeb Mohammad A, Bilal Muhammad, Ahmad Farooq, Rappold Gudrun A, Ansar Muhammad, Carapito Raphael

Abstract excerpt

Intellectual disability (ID) is a highly heterogeneous genetic condition with more than a thousand genes described so far. By exome sequencing of two consanguineous families presenting hallmark features of ID, we identified two homozygous variants in two genes previously associated with autosomal recessive ID: NDST1 (c.1966G>A; p.Asp656Asn) and METTL23 (c.310T>C; p.Phe104Leu). The segregation of the variants was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32878022
DOI: 10.3390/genes11091021
PMCID: PMC7563614

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