Table 6 Summary of clinical and molecular findings in patients with titinopathy (LGMD 2 J or autosomal recessive 10)
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
41 | TTN | NM_001256850 | c.14,780 A > T p.N4927I | 608807 611705 | AR | Hom | NR | VUS | - | 6 years | Male | Yes | Muscle weakness, bilateral club foot |
42 | TTN | NM_001267550 | c.34922delC p.P11641Qfs*20 | 608807 611705 | AR | Het | Pathogenic | Pathogenic | rs1553809971 | 8 months | Male | No | Lethargy, sweating and hypotonia |
NM_133379 | c.3487G > A p.G1163R | Het | Likely Pathogenic | Likely Pathogenic | rs1554015228 | ||||||||
43 | TTN | NM_001267550 | c.106925G > A p.G35642D | 608807 611705 | AR | Hom | VUS | VUS | rs1553480410 | 48 years | Female | Yes | Progressive muscle weakness from 8 years ago, in muscle biopsy muscular dystrophy was diagnosed. In EMG / NCV polymyopathy was reported. |
44 | TTN | NM_001267550.2 | c.64681G > A p.G21561S | 611705 608807 | AR AR | Hom | VUS | VUS | rs200355808 | 22 years | Female | Yes | Pulmonary fibrosis, cardiac anomaly, limb deformity and muscle waste |