Journal article
Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
Child neurology open, Vol.9, p.2329048X221097518
04/2022
DOI: 10.1177/2329048X221097518
PMCID: PMC9087226
PMID: 35557983
Abstract
Limb-girdle muscular dystrophy R9 (LGMD2I, LGMDR9) is an autosomal recessive disorder caused by pathogenic variants in the fukutin-related protein (
) gene. We describe a 17 year old boy with LGMDR9 whose symptoms began at age 5 years. Muscle histopathology, immunostaining, and western blotting were consistent with a dystroglycanopathy. Genetic testing identified maternal inheritance of the most common pathogenic
variant c.826C>A (p.L276I). Also detected was a novel insertion and duplication on the paternally inherited
allele: a single nucleotide insertion (c.948_949insC) and an eighteen nucleotide duplication (c.999_1017dup18) predicted to result in premature translation termination (p.E389*). Based on the clinical features and course of the patient, heterozygosity for the common pathogenic
variant, and abnormal glycosylation of alpha-dystroglycan, we suggest that the novel
insertion and duplication are pathogenic. This case expands the genetic heterogeneity of LGMDR9 and emphasize the importance of muscle biopsy for precise diagnosis.
Details
- Title: Subtitle
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
- Creators
- Erin Willis - University of Arkansas for Medical SciencesSteven A Moore - University of IowaMary O Cox - University of IowaVikki Stefans - University of Arkansas for Medical SciencesAkilandeswari Aravindhan - University of Arkansas for Medical SciencesMurat Gokden - University of Arkansas for Medical SciencesAravindhan Veerapandiyan - University of Arkansas for Medical Sciences
- Resource Type
- Journal article
- Publication Details
- Child neurology open, Vol.9, p.2329048X221097518
- DOI
- 10.1177/2329048X221097518
- PMID
- 35557983
- PMCID
- PMC9087226
- ISSN
- 2329-048X
- Language
- English
- Date published
- 04/2022
- Academic Unit
- Pathology
- Record Identifier
- 9984267241802771
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