A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.
Clin Genet
; 94(3-4): 393-395, 2018 10.
Article
em En
| MEDLINE
| ID: mdl-30059600
ABSTRACT
We identified the homozygous p.Arg12* variant in 5 patients with neurodevelopmental delay, but variation databases list many truncating heterozygous variants for this small 2-exon gene. As most of these affect the protein's C-terminus, loss-of-function mediated pathogenicity may be confined to bi-allelic truncating variants in exon 1 (nonsense-mediated decay!) or in the catalytically active Nudix box.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Monoéster Fosfórico Hidrolases
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Efeito Fundador
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Transtornos do Neurodesenvolvimento
/
Genes Recessivos
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Alemanha