Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy.
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ABSTRACT:
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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2010-01-28 | GSE20025 | GEO