Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of gene.
- Author:
Tie LOU
1
;
Yingzhi HUANG
1
;
Minyue DONG
1
Author Information
1. Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China.
- Publication Type:Case Reports
- MeSH:
Alternative Splicing;
Female;
Humans;
Male;
Membrane Proteins;
genetics;
Mutation;
Neuronal Ceroid-Lipofuscinoses;
genetics
- From:
Journal of Zhejiang University. Medical sciences
2019;48(4):373-377
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the genetic cause of a family with autosomal recessive neuronal ceroid lipofuscinoses (NCL).
METHODS:The proband was screened for mutations within the coding region of the candidate genes through high-throughput targeted sequencing. Potential causative mutations were verified by PCR and Sanger sequencing in the proband and his parents. RT-PCR and TA clone sequencing were performed to investigate whether the mRNAs were abnormally spliced.
RESULTS:The sequencing results revealed compound heterozygous mutations of :c.486+2T>C and c.486+4A>T, which were respectively inherited from his parents. RT-PCR and TA cloning sequencing suggested that the mRNAs were abnormally spliced in two forms due to both mutations.
CONCLUSIONS:The compound heterozygous mutations of :c.486+2T>C and c.486+4A>T are possibly the genetic causes of the NCL family. Detection of the novel mutation has extended mutation spectrum of .
