title: Screening two mutations in the dysferlin gene by exon capture and sequence analysis: A case report.
abstract: A patient with progressive muscular atrophy was assessed for the disease-associated genes by next-generation sequencing technology and exon trap and sequence analysis. The results of the investigation identified 399 genes, covering all exons in addition to 10 bp on either side, which are specific to 659 types of neuromuscular disorders, including hypotypes. Exon capture and sequence analysis revealed that the patient possessed two splice site mutations in the dysferlin (DYSF) gene, c.144+1G>A and c.342+1G>T, and the presence of the mutations was confirmed by Sanger sequencing. The patient's mother and sister were also assessed and confirmed to have mutations within the DYSF gene, the mother with c.342+1G>T and the sister with c.144+1G>A. The two splice site mutations in the DYSF gene, c.144+1G>A and c.342+1G>T, have not previously been reported. Therefore, exon capture and sequence analysis is able to rapidly and efficiently screen for genetic alterations in neuromuscular disorders.
authors.affiliation: Department of Prenatal Diagnosis, Women and Children's Hospital of Sichuan Province, Chengdu, Sichuan 610000, P.R. China.
authors.forename: Xueyan
authors.initials: X
authors.lastname: Wang
authors.affiliation: BGI-Wuhan, Wuhan, Hubei 430000, P.R. China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Obstetrics and Gynecology, Huaxi Second Hospital of Sichuan University, Chengdu, Sichuan 610041, P.R. China.
authors.forename: Rong
authors.initials: R
authors.lastname: Zhou
keywords: dysferlin gene; mutations; next-generation sequencing