Table 2.
Genetic findings of "solved" patients.
| N°/Child or Adult | Mutated Gene/Inheritance | RefSeq Match | Reference Group Genes * | cDNA | Protein | ACMG/Franklin Classification | Zygosity | Familiarity |
|---|---|---|---|---|---|---|---|---|
| 1/C | ETFDH/AR | NM_004453.4 | A | c.176-2A>T | splice acceptor variant | P | Homozygous | Not investigated |
| 2/C | HADHB/AR | NM_000183.3 | A | c.1280G>A c.1370C>T |
p.Gly427Glu p.Ala457Val |
LP VUS |
Compound heterozygous | Mother p.Gly427Glu Father p.Ala457Val |
| 3/C | RYR1/AD-AR | NM_000540.3 | E | c.10010G>A | p.Arg3337Gln | LP | Heterozygous | Father (s) p.Arg3337Gln Mother negative |
| 4/C | RYR1/AD-AR | NM_000540.3 | E | c.14918C>T | p.Pro4973Leu | P | Heterozygous | Mother (s) p.Pro4973Leu |
| 5/C | RYR1/AD-AR | NM_000540.3 | E | c.13490C>G c.4759G>C |
p.Pro4497Arg p.Ala1587Pro |
VUS VUS |
Compound heterozygous | Mother p.Pro4497Arg Father p.Ala1587Pro |
| 6/C | LPIN1/AR | NM_001261428 | C | c.328C>T c.2395-866_2410-30del |
p.Arg110 * p.Glu766_Ser838del | P P |
Compound heterozygous | Mother p.Arg110 * Father p.Glu766_Ser838del |
| 7/A | ANO5/AR | NM_213599.3 | D | c.902G>T c.2516T>G |
p.Gly301Val 21 p.Met839Arg |
LP LP |
Possibly compound heterozygous | Not investigated |
| 8/A | CPT2/AR-AD | NM_000098.3 | A | c.338C>T | p.Ser113Leu | LP | Homozygous | Not investigated |
| 9/A | CPT2/AR-AD | NM_000098.3 | A | c.338C>T c.887G>T |
p.Ser113Leu p.Arg296Leu |
LP VUS |
Possibly compound heterozygous | Not investigated |
| 10/A | ETFDH/AR | NM_004453.4 | A | c.1531G>A c.1832G>A |
p.Asp511Asn p.Gly611Glu |
VUS LP |
Possibly compound heterozygous | Not investigated |
| 11/A | ETFDH/AR | NM_004453.4 | A | c.250G>A | p.Ala84Thr | P | Homozygous | Not investigated |
| 12/A | ETFDH/AR | NM_004453.4 | A | c.1249C>T c.1531G>A |
p.Gln417Ter p.Asp511Asn |
P P |
Possibly compound heterozygous | Not investigated |
| 13/A | ETFDH/AR | NM_004453.4 | A | c.74dupA c.256C>T |
p.Tyr25 * p.Arg86Cys |
LP VUS |
Possibly compound heterozygous | Not investigated |
| 14/A | ETFDH/AR | NM_004453.4 | A | c.250G>A | p.Ala84Thr | LP | Homozygous | Not investigated |
| 15/A | ETFDH/AR | NM_004453.4 | A | c.1531G>A | p.Asp511Asn | LP | Homozygous | Not investigated |
| 16/A | PYGM/AR | NM_005609.4 | B | c.1A>G | p.? | P | Homozygous | Not investigated |
| 17/A | RBCK1/AR | NM_031229.4 | D | c.896_899delAGTG | p.Glu299Valfs * 46 | P | Homozygous | Not investigated |
| 18/A | RYR1/AD-AR | NM_000540.3 | E | c.14545G>A | p.Val4849Ile | LP | Heterozygous | Father negative Mother (s) p.Val4849Ile |
| 19/A | RYR1/AD-AR | NM_000540.3 | E | c.11708G>A | p.Arg3903Gln | P | Heterozygous | Not investigated |
| 20/A | RYR1/AD-AR | NM_000540.3 | E | c.8594T>C c.6226_6228delA AG |
p.Val2865Ala p.Lys2076del |
VUS LP |
Possibly compound heterozygous | Not investigated |
| 21/A | RYR1/AD-AR | NM_000540.3 | E | c.12700G>A c.4910C>T |
p.Val4234Met p.Ala1637Val |
LP VUS |
Possibly compound heterozygous | Not investigated |
* Gene classification according to the groups reported in Table 1: (A) fatty acid oxidation/lipid metabolism; (B) glycogen metabolism; (C) mitochondrial disorders; (D) muscular dystrophies/congenital myopathies; (E) disturbances in intramuscular calcium release. AD: autosomal dominant; AR: autosomal recessive; (s): symptomatic. ACMG classification by Franklin tool [May 2023]: P: Pathogenic; LP: Like Pathogenic; VUS: variant of uncertain significance.