A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.
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ABSTRACT:
SUBMITTER: Chinen Y
PROVIDER: S-EPMC6513828 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
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A novel nonsense <i>SMC1A</i> mutation in a patient with intractable epilepsy and cardiac malformation.
Chinen Yasutsugu Y Nakamura Sadao S Kaneshi Takuya T Nakayashiro Mami M Yanagi Kumiko K Kaname Tadashi T Naritomi Kenji K Nakanishi Koichi K
Human genome variation 20190513
Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with <i>SMC1A</i>-associated CdLS with a novel <i>SMC1A</i> truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable seizures from 40 months of age. A review of the literature revealed that a seizure-free period after birth of at least 15 months is required for these patients to be able to walk, irrespective of the epileptic course. ...[more]
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