Table 4 Summary of clinical and molecular findings in patients with dysferlinopathy (LGMD 2B/R2) with autosomal recessive inheritance pattern
From: A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies
Case number | Gene | Transcript | Variant | OMIM | Inheritance | Zygosity | ACMG classification | ClinVar | dbSNP rsID | Age | Sex | Consanguinity | Indication |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
28 | DYSF | NM_001130980 | c.2861 + 1G > A | 253601 254130 | AR | Hom | Pathogenic | Pathogenic | rs199954546 | 45 years | Male | Yes | Progressive muscle weakness and muscular dystrophy |
29 | DYSF | NM_001130987.2 | c.5102 C > T p.T1701M | 254130 253601 606768 | AR AR AR | Het | Likely Benign | Conflicting | rs143059463 | 6.5 years | Female | Yes | Recurrent vomiting, short stature |
c.6020G > A p.W2007* | Het | Likely Pathogenic | NR | - | |||||||||
30 | DYSF | NM_001130987.2 | c.5680G > T p.D1894Y | 254130 253601 606768 | AR | Hom | Likely Pathogenic | NR | - | 28 years | Female | Yes | progressive muscle weakness in limbs |