Clinical Research
MFSD8 gene mutation and clinical characteristics of a family with neuronal ceroid lipofuscinosis type 7
Chen Xiaoyi, Zhu Yongjie, Mei Daoqi, Mei Shiyue, Wang Li, Ma Yanli, Chen Guohong, Zhang Yaodong
Published 2020-07-08
Cite as Chin J Neurol, 2020, 53(7): 507-512. DOI: 10.3760/cma.j.cn113694-20200104-00010
Abstract
ObjectiveTo investigate the clinical characteristics and mutation of MFSD8 gene in a family with neuronal ceroid lipofuscinosis type7 (CLN7).
MethodsThe clinical data of a CLN7 patient and her family from the Children′s Hospital Affiliated to Zhengzhou University in January 2018 were reviewed and analyzed. Whole exome sequencing of second-generation sequencing was used to analyze gene mutation results.
ResultsThe proband, a five years and nine months old girl, admitted to the Children′s Hospital Affiliated to Zhengzhou University with the chief complaint of "intermittent seizures for seven months". She had the first seizure at the age of five years and two months, and different types of generalized tonic-clonic and atypical absence seizures were found. At the age of five years and nine months, she was admitted to the hospital with mild mental deterioration. She had normal motor and physical development. Ophthalmological evaluation revealed macular degeneration. The video electroencephalography revealed multifocal spikes or spike-and-wave, prominent in the anterior fronto-temporal regions. Magnetic resonance imaging (MRI) revealed cerebellar atrophy. Compound heterozygous mutations c.553 (exon 6) G>A and c.1391 (exon 13) C>T were found on her MFSD8 gene, supporting the diagnosis of CLN7. Each of her parent carried one of the mutations, and c.553 (exon 6) G>A was a new mutation. Her elder brother had the first seizure at the age of 6 years, with motor and mental deterioration as well as visual impairment. MRI revealed generalized cerebral atrophy. He had the same compound heterozygous mutations with his sister. No pathogenic mutation was found in her younger brother.
ConclusionsCLN7 is a rare neurodegenerative disease, the main clinical features of which are epileptic seizures, progressive motor intelligence regression, visual loss, cranial MRI suggesting brain atrophy, and binocular macular degeneration. MFSD8 gene heterozygous mutations c.553G>A (p.V185I) and c.1391C>T (p.A464V) are the genetic etiology of this proband.
Key words:
Neuronal ceroid-lipofuscinosis 7; MFSD8 gene; Heterozygous mutations
Contributor Information
Chen Xiaoyi
Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, Henan Children′s Hospital, Zhengzhou Children′s Hospital, Zhengzhou 450018, China
Zhu Yongjie
Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, Henan Children′s Hospital, Zhengzhou Children′s Hospital, Zhengzhou 450018, China
Mei Daoqi
Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, Henan Children′s Hospital, Zhengzhou Children′s Hospital, Zhengzhou 450018, China
Mei Shiyue
Henan Provincial Key Laboratory of Children′s Genetics and Metabolic Diseases, Henan Engineering Research Center of Childhood Neurodevelopment, Zhenzhou 450018, China
Wang Li
Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, Henan Children′s Hospital, Zhengzhou Children′s Hospital, Zhengzhou 450018, China
Ma Yanli
Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, Henan Children′s Hospital, Zhengzhou Children′s Hospital, Zhengzhou 450018, China
Chen Guohong
Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, Henan Children′s Hospital, Zhengzhou Children′s Hospital, Zhengzhou 450018, China
Zhang Yaodong
Henan Provincial Key Laboratory of Children′s Genetics and Metabolic Diseases, Henan Engineering Research Center of Childhood Neurodevelopment, Zhenzhou 450018, China
