1.

論文（リポジトリ）
論文（リポジトリ）
1. A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data
Chinen, Yasutsugu ; Yanagi, Kumiko ; Nakamura, Sadao ; Nakayama, Noriko ; Kamiya, Motoko ; Nakayashiro, Mami ; Kaname, Tadashi ; Naritomi, Kenji ; Nakanishi, Koichi
出版情報: Human Genome Variation.  7  2020-04-16.  Springer Nature
URL: http://hdl.handle.net/20.500.12000/47023
概要: Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in m … itochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous missense mutations of p.Arg275Gln within the SLC25A20 gene. One patient died from hypoglycemia and arrhythmia at 26 months; his pathological autopsy revealed increased and enlarged mitochondria in the heart but not in the liver.
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2.

論文（リポジトリ）
論文（リポジトリ）
2. A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation
Chinen, Yasutsugu ; Nakamura, Sadao ; Kaneshi, Takuya ; Nakayashiro, Mami ; Yanagi, Kumiko ; Kaname, Tadashi ; Naritomi, Kenji ; Nakanishi, Koichi
出版情報: Human Genome Variation.  6  2019-05-13.  Springer Nature
URL: http://hdl.handle.net/20.500.12000/45906
概要: Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associ … ated CdLS with a novel SMC1A 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.
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