Key result
Novel homozygous TTN missense variant linked to limb-girdle muscular dystrophy type 10 in consanguineous family.
Why the study?
Pathogenic mutations in TTN are associated with several muscle disorders including LGMD type 10, but the phenotypic spectrum is expanding with new variants identified by next generation sequencing.
Population
A consanguineous Pakistani family with autosomal recessive LGMD type 10
Comparison
Homozygous missense variant carriers vs non-carriers within the family
Design
Case report using whole exome sequencing and Sanger sequencing
Authors
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Whole exome sequencing successfully identified a novel homozygous missense variant in the TTN gene as the likely cause of autosomal recessive limb-girdle muscular dystrophy type 10 in a consanguineous family.
Case Report (n=4)
No
Whole exome sequencing successfully identified a novel homozygous missense variant in the TTN gene as the likely cause of autosomal recessive limb-girdle muscular dystrophy type 10 in a consanguineous family.
Khan et al. (2019) conducted a case report in Autosomal recessive limb-girdle muscular dystrophy type 10 (n=4). Homozygous missense variant (c.98807G > A; p.Arg32936His) in the TTN gene vs. Unaffected family members and 200 ethnically matched controls was evaluated on Identification of pathogenic variant causing LGMD type 10. A novel homozygous missense variant (c.98807G > A; p.Arg32936His) in the TTN gene was identified as the genetic cause of autosomal recessive limb-girdle muscular dystrophy type 10 in a consanguineous Pakistani family.
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