Expanding the clinical spectrum of biallelic ZNF335 variants.
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ABSTRACT:
SUBMITTER: Stouffs K
PROVIDER: S-EPMC6361164 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
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Expanding the clinical spectrum of biallelic ZNF335 variants.
Stouffs K K Stergachis A B AB Vanderhasselt T T Dica A A Janssens S S Vandervore L L Gheldof A A Bodamer O O Keymolen K K Seneca S S Liebaers I I Jayaraman D D Hill H E HE Partlow J N JN Walsh C A CA Jansen A C AC
Clinical genetics 20180503 2
ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive microcephaly in 2 unrelated families. We describe, herein, 2 additional affected individuals with biallelic ZNF335 variants, 1 individual with a homozygous c.1399 T > C, p.(Cys467Arg) variant, and a second individual with compound heterozygous c.2171_2173delTCT, p.(Phe724del) and c.3998A > G, p.(Glu1333Gly) variants with the latter variant predic ...[more]
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