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A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children
Author(s) -
Yavuz H.,
BertoliAvella A.M.,
Alfadhel M.,
AlSannaa N.,
Kandaswamy K.K.,
AlTuwaijri W.,
Rolfs A.,
Brandau O.,
Bauer P.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13386
Subject(s) - nonsense , genetics , exon , allele , neurodevelopmental disorder , nonsense mutation , gene , loss function , biology , founder effect , nonsense mediated decay , compound heterozygosity , mutation , phenotype , haplotype , missense mutation , rna splicing , rna
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.