Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: JAG2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566
Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy.
Sources: LiteratureCreated: 3 May 2021, 6:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
muscular dystrophy
Publications
Gene: jag2 has been classified as Green List (High Evidence).
Publications for gene: JAG2 were set to
Gene: jag2 has been classified as Green List (High Evidence).
gene: JAG2 was added gene: JAG2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAG2 were set to muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456