A novel splicing variant in MICAL-1 gene is associated with epilepsy.

Yang, Haiyan; Liao, Hongmei; Gan, Siyi; Xiao, Ting; Wu, Liwen

Yang, Haiyan; Liao, Hongmei; Gan, Siyi; Xiao, Ting; Wu, Liwen.

Afiliación

Yang H; Department of Neurology, The Affiliated Children's Hospital Of Xiangya School of Medicine, Central South Universityï¼Hunan children's hospital), Changsha, Hunan, China.
Liao H; Department of Neurology, The Affiliated Children's Hospital Of Xiangya School of Medicine, Central South Universityï¼Hunan children's hospital), Changsha, Hunan, China.
Gan S; Department of Neurology, The Affiliated Children's Hospital Of Xiangya School of Medicine, Central South Universityï¼Hunan children's hospital), Changsha, Hunan, China.
Xiao T; Department of Pediatrics, Xiangya Hospital, Central South University, Xiangya Road 87th, Changsha, Hunan, China.
Wu L; Department of Neurology, The Affiliated Children's Hospital Of Xiangya School of Medicine, Central South Universityï¼Hunan children's hospital), Changsha, Hunan, China. Electronic address: 271417152@qq.com.

Eur J Med Genet ; 69: 104946, 2024 Jun.

Article en En | MEDLINE | ID: mdl-38705457

ABSTRACT

ABSTRACT

Germline MICAL1 defects have been rarely reported in patients with epilepsy and the genotype-phenotype association remains unclear. In this study, the patient was a 4.6 years old girl who presented with onset of recurrent focal seizures with onset at age 3.4 years. EEG showed abnormal Î´-wave activity in the right central and middle temporal lobe. Trio WES showed a novel heterozygous variant c.-43-1G > A in the MICAL1 gene in the patient and her normal mother. Minigene verified two abnormal transcripts due to the mutation, which was predicted to interrupt 5'UTR structures of MICAL1. The patient was clinically diagnosed with benign childhood epilepsy with centrotemporal spike (BECTS). As far as we know, this is the first BECTS case with documented MICAL1 mutation. Novel MICAL1 variant c.-43-1G > A putatively interrupted MICAL1 translation by changing 5'UTR structures and, however, further functioning study is needed.

Asunto(s)

Epilepsia; Humanos; Femenino; Preescolar; Epilepsia/genética; Epilepsia/patología; Empalme del ARN; Regiones no Traducidas 5'; Mutación

Palabras clave

Epilepsy; MICAL1 gene; Minigene; Pathogenesis; Whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Límite: Child, preschool / Female / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Países Bajos

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