Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.

Newell BelnapAiai Price-SmithKeri RamseyKamawela LekaAnna AbrahamEmma LiebermanKatie HassettSai PotuNatasha RudyKirstin SmithFady M MikhailKirstin G MonaghanAndrea HendershotJeroen MourmansMaria DescartesMatthew J HuentelmanJennifer SillsSampathkumar RangasamyVinodh Narayanan

Published in: Clinical genetics (2023)

Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.

Keyphrases

mitochondrial dna
copy number
birth weight
case report
pregnancy outcomes
pregnant women
dna methylation
gene expression
physical activity
body mass index
weight gain
preterm birth