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Article

CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.

European journal of medical genetics - 1 Apr 2021

Koprulu Mine, Shabbir Rana Muhammad Kamran, Zaman Qamar, Nalbant Gökhan, Malik Sajid, Tolun Aslıhan

Abstract excerpt

In a consanguineous Pakistani kinship afflicted with mild to moderate intellectual disability (ID), mild lissencephaly, brain atrophy and skeletal anomalies, we detected homozygous CRADD c.2T > G (p.Met1?) and USP44 c.873_886delinsT (p.Leu291Phefs*8), two good candidates 1.85-Mb apart that segregated with the disorder. Biallelic damaging variants in CRADD cause recessive mental retardation-34 (MRT34; MIM 614499)...

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Identifiers

PMID: 33647455
DOI: 10.1016/j.ejmg.2021.104181

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