Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy

A 2-year-old boy was diagnosed with Ullrich congenital muscular dystrophy (UCMD) by muscle biopsy. COL6A3 gene analysis by next-generation sequencing revealed two heterozygous splice-site mutations (c.6283-1 G > G/T and c.6310-2 A > A/T), whereas normal mRNA was produced. Genomic DNA analysis...

Descripción completa

Detalles Bibliográficos
Autores principales: Shimomura, Hideki, Lee, Tomoko, Tanaka, Yasuhiko, Awano, Hiroyuki, Itoh, Kyoko, Nishino, Ichizo, Takeshima, Yasuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486579/
https://www.ncbi.nlm.nih.gov/pubmed/31044083
http://dx.doi.org/10.1038/s41439-019-0052-z
Descripción
Sumario:A 2-year-old boy was diagnosed with Ullrich congenital muscular dystrophy (UCMD) by muscle biopsy. COL6A3 gene analysis by next-generation sequencing revealed two heterozygous splice-site mutations (c.6283-1 G > G/T and c.6310-2 A > A/T), whereas normal mRNA was produced. Genomic DNA analysis revealed two mutations located on the same allele; however, no mutation was detected in either parent. These results indicated that two closely spaced de novo mutations resulted in the autosomal dominant UCMD.

Ejemplares similares