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

ABSTRACT: 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.

SUBMITTER: Shimomura H 

PROVIDER: S-EPMC6486579 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Two closely spaced mutations <i>in cis</i> result in Ullrich congenital muscular dystrophy.

Shimomura Hideki H   Lee Tomoko T   Tanaka Yasuhiko Y   Awano Hiroyuki H   Itoh Kyoko K   Nishino Ichizo I   Takeshima Yasuhiro Y  

Human genome variation 20190426

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 UC  ...[more]

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