Muscular dystrophy and myopathy_Paediatric
Gene: TNNC2
Age of onset is soon after birth
PMID: 33755597
2 individuals from unrelated families
Muscle biopsies showed hypertrophy or slow-twitch myofibres.
Sources: OtherCreated: 9 May 2023, 3:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital Myopathy 15 (MIM#62016)
Publications
Two families reported:
Family 1: 4 individuals, three generations; missense variant p.(Asp34Tyr)
Family 2: de novo variant, missense p.(Met79Ile)
Physiological studies in myofibers isolated from patients’ biopsies revealed a markedly reduced force response of the sarcomeres to [Ca2+]. This pathomechanism was further confirmed in experiments in which contractile dysfunction was evoked by replacing TnC in myofibers from healthy control subjects with recombinant, mutant TnC. Conversely, the contractile dysfunction of myofibers from patients was repaired by replacing endogenous, mutant TnC with recombinant, wild-type TnC.
Borderline Green: sufficient segregation in Fam 1 plus de novo status in Fam 2, plus functional data.
Sources: LiteratureCreated: 7 Dec 2022, 9:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, congenital, with neonatal respiratory insufficiency, MIM# 620161
Publications
Gene: tnnc2 has been classified as Amber List (Moderate Evidence).
Gene: tnnc2 has been classified as Amber List (Moderate Evidence).
gene: TNNC2 was added gene: TNNC2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TNNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNC2 were set to 33755597 Phenotypes for gene: TNNC2 were set to Congenital Myopathy 15 (MIM#62016) Review for gene: TNNC2 was set to AMBER