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A novel multi‐exon deletion in the dysferlin gene of a limb‐girdle muscular dystrophy type 2B Filipino patient
Author(s) -
Porto Kristine Joyce L.,
Mitsui Jun,
Ishiura Hiroyuki,
Kubota Akatsuki,
Luspian Kathleen Jaye L.,
Eduardo Emmanuel,
Damian Ludwig,
Toda Tatsushi,
Tsuji Shoji
Publication year - 2020
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12453
Subject(s) - dysferlin , limb girdle muscular dystrophy , exon , medicine , muscular dystrophy , genetics , gene , mutation , nonsense mutation , allele , nonsense , biology , missense mutation
We present a 34‐year‐old woman, from Philippines, diagnosed limb‐girdle muscular dystrophy type 2B with compound heterozygous nonsense mutation W1478* and novel deletion of exons 43‐46 of the dysferlin gene. These loss‐of‐function mutations do not seem to be predictive of a severer clinical course. We report the first identification of microhomologous region of 2 bp (TG) identical sequences surrounding the breakpoint junction. Detailed analysis of the deleted allele should be pursued in order to better understand the underlying mechanism of genomic rearrangements of the dysferlin gene.