Tie Lou1,2, Yingzhi Huang1, Minyue Dong1. 1. Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China. 2. Department of Gynecology and Obstetrics, Jianggan District People's Hospital, Hangzhou 310021, China.
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 CLN6: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 CLN6: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 CLN6.
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 CLN6: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 CLN6: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 CLN6.
Authors: Carla A Teixeira; Janice Espinola; Liang Huo; Johannes Kohlschütter; Dixie-Ann Persaud Sawin; Berge Minassian; Carlos J P Bessa; A Guimarães; Dietrich A Stephan; Maria Clara Sá Miranda; Marcy E MacDonald; Maria Gil Ribeiro; Rose-Mary N Boustany Journal: Hum Mutat Date: 2003-05 Impact factor: 4.878
Authors: Joseph J Chin; Babak Behnam; Mariska Davids; Prashant Sharma; Wadih M Zein; Camille Wang; Xenia Chepa-Lotrea; William Brian Gallantine; Camilo Toro; David R Adams; Cynthia J Tifft; William A Gahl; May Christine V Malicdan Journal: Mol Genet Metab Date: 2018-12-03 Impact factor: 4.797