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Article

Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.

American journal of medical genetics. Part A - 1 Aug 2022

Yagasaki Hideaki, Sano Fumikazu, Narusawa Hiromune, Watanabe Daisuke, Kaga Yoshimi, Kobayashi Koji, Asano Yoshihiro, Nagata Miho, Yonei Ayumi, Inukai Takeshi

Abstract excerpt

Neonatal diabetes mellitus (NDM) with developmental delay and epilepsy is classified as developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome. The majority of DEND syndrome are due to severely damaging variants of K-ATP channels, and few mitochondria-related genes have been reported. We report here two Japanese siblings who were clinically diagnosed with DEND syndrome in whom NARS2 compound...

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PMID: 35703918
DOI: 10.1002/ajmg.a.62873

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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