Table 1 Phenotype distribution of individuals with identified pathogenic genes in our cohort.
No | Age (Y) | Gender | Diagnosis | Clinical presentation | Panel name | WES | Diagnosed by | Gene name | Zygosity | Variant |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 13 | F | AR spastic ataxia of Charlevoix-Saguenay | Progressive spasticity, ataxia | CMT | Yes | WES | SACS | Homozygous | c.8104C > G p.(Leu2702Val) |
2 | 13 | F | CMT | Walking difficulty | CMT | Yes | WES | PTRH2 | Homozygous | c.254A > C p.(Gln85Pro) |
3 | 10 | F | HSAN type II | Frquent falls, poor sweating | CMT | No | Panel | FBXO38 | Heterozygous | c.1151C > T p.(Pro384Leu) |
4 | 7 | F | CMT | Walking difficulty | CMT | No | Panel | PRX | Homozygous | c.2787del (Ser929fsTer957) |
5 | 7 | M | CMT | Frquent falls | CMT | No | Panel | MFN2 | Heterozygous | c.141_142del p.(Ala48Leufs*10) |
6 | 5 | F | CMT | Frquent falls, distal weakness | CMT | No | Panel | MFN2 | Heterozygous | c.58C > T p.(His20Tyr) |
7 | 15 | F | CMT | Walking difficulty, Feet pain | CMT | No | Panel | PMP22 | Heterozygous | heterozygous duplication |
8 | 4 | M | CMT | Loss of pain sensation | CMT | No | Panel | SCN9A | Homozygous | c.1975del p.(Cys659Valfs*11) |
9 | 6 | F | CMT | Hypotonia, absent CC | CMT | No | Panel | SLC12A6 | Homozygous | c.892C > T p.(Arg298*) |
10 | 12 | M | CMD | Dismorphism, severe muscle wasting | CMD | Yes | Panel | LAMA2 | Homozygous | c.(283 + 1_284-1)_(396 + 1_397-1)del |
11 | 9 | F | EDMD | Walking difficulty | CMD | No | Panel | LMNA | Heterozygous | c.1072G > A p.(Glu358Lys) |
12 | 3 | M | EDMD | Walking difficulty, Lordosis | CMD | No | Panel | LMNA | Heterozygous | c.1126T > C p.(Tyr376His) |
13 | 6 | F | Bethlem myopathy | Generalized weakness | CMD | No | Panel | COL6A1 | Homozygous | c.1741-6G > A p.? |
14 | 6 | F | CMS | Fatigable weakness | CMS | No | Panel | COLQ | Homozygous | c.871T > G (p.Cys291Gly) |
15 | 10 | F | Metabolic myopathy | Recurrent rhabdomyolysis | GSD | Yes | WES | MLIP | Homozygous | c.2530C > T p.(Arg844*) |
16 | 13 | M | Metabolic myopathy | Recurrent rhabdomyolysis | GSD | No | Panel | MLIP | Homozygous | c.2530C > T p.(Arg844*) |
17 | 15 | F | SCA type 17 | Ataxia, tremor, scoliosis | Hereditary ataxias | No | Panel | CWF19L1 | Homozygous | c.142_143del p.(Thr48Profs*4) |
18 | 5 | F | SCA type 17 | Ataxia, tremor, weakness | Hereditary ataxias | No | Panel | CWF19L1 | Homozygous | c.605dup p.(Tyr202*) |
19 | 7 | F | HSP | Progressive lower limb spasticity, achromatopsia | HSP | Yes | WES | CNGB3 | Homozygous | c.1432C > T p.(Arg478*) |
20 | 12 | F | HSP | Progressive lower limb spasticity | HSP | No | Panel | KIF1A | Heterozygous | c.4654G > A p.(Ala1552Thr) |
21 | 10 | M | HSP | Progressive lower limb spasticity | HSP | No | Panel | B4GALNT1 | Homozygous | c.219-1G > C p.? |
22 | 5 | F | Neuronal Ceriod Lipofucinosis type 8 | Hypotonia, developmental delay | Leukodystrophy | Yes | Panel | CLN8 | Homozygous | c.180_181del p.(Lys61Glyfs*56) |
23 | 6 | M | Alexander disease | Hypotonia, developmental delay | Leukodystrophy | No | Panel | GFAP | Heterozygous | c.1184A > T p.(Asp395Val) |
24 | 15 | M | X-Linked Adrenoleukodystrophy | Developmental delay | Leukodystrophy | No | Panel | ABCD1 | Homozygous | c.818C > A p.(Ala273Glu) |
25 | 3 | F | PM-like disease, | Progressive lower limb spasticity | Leukodystrophy | No | WES | GJC2 | Homozygous | c.401del p.(Gly134Alafs*76) |
26 | 5 | F | Proximal myopathy | Recurrent rhabdomyolysis, muscle pain | LGMD | Yes | WES | MICU1 | Homozygous | c.553C > T p.(Gln185*) |
27 | 9 | F | LGMD | Proximal muscle weakness | LGMD | No | Panel | FKRP | Homozygous | c.941C > T p.(Thr314Met) |
28 | 6 | M | Metabolic Myopathy | Recurrent rhabdomyolysis | Metabolic Myopathies | No | Panel | LPIN1 | Heterozygous | c.2513 + 1G > A p.? |
29 | 13 | F | American native myopathy | Proximal muscle weakness, scoliosis | Myopathy | Yes | WES | STAC3 | Homozygous | c.851G > C p.(Trp284Ser) |
30 | 5 | F | Collagenopathy | arthrogryposis, proximal myopathy, contracturers | Myopathy | No | Panel | COL6A2 | Homozygous | c.5355C > G p.(Ile1785Met) |
31 | 7 | F | American native myopathy | Proximal muscle weakness, scoliosis | Myopathy | No | Panel | STAC3 | Homozygous | c.851G > C p.(Trp284Ser) |
32 | 9 | M | American native myopathy | Proximal muscle weakness, scoliosis | Myopathy | No | Panel | STAC3 | Homozygous | c.851G > C p.(Trp284Ser) |
33 | 2 | F | Recurrent rhabdomyolysis | Lower limb, periodic paralysis, dysmorphism | NDMPP | Yes | WES | TANGO2 | Homozygous | c.220A > C p.(Thr74Pro) |
34 | 4 | M | Myotonia congenita | Abnormal gait, muscular build | NDMPP | No | Panel | CLCN1 | Homozygous | c.2498_2507del p.(Thr833Argfs*16) |
35 | 7 | F | Paramyotonia congenita | Muscle hypertrophy | NDMPP | No | Panel | SCN4A | Heterozygous | c.3938C > T p.(Thr1313Met) |
36 | 6 | F | CAPOS Syndrome | Ataxia, areflexia | None | Yes | WES | ATP1A3 | Heterozygous | c.2266C > A p.(Arg756Ser) |
37 | 6 | F | CMD | Hypotonia, dismorphism | None | Yes | WES | LAMA2 | Homozygous | c.6488del p.(Lys2163Argfs*12) |
38 | 4 | M | CMD | Motor delay | None | Yes | WES | LAMA2 | Homozygous | c.1762del p.(Ala588Leufs*11) |
39 | 3 | F | CMD | hypotonia, recurrent chest infections | None | Yes | WES | LAMA2 | Homozygous | c.1762del p.(Ala588Leufs*11) |
40 | 4 | F | Congenital myopathy | Proximal muscle weakness | None | Yes | WES | RYR1 | Heterozygous | c.14422_14423delTTinsAA p.(Phe4808Asn) |
41 | 3 | F | Selenoprotein N‐related myopathy | Proximal muscle weakness | None | Yes | WES | SELENON | Homozygous | c.1446delC |
42 | 2 | F | American native myopathy | Proximal muscle weakness | None | Yes | WES | STAC3 | Homozygous | c.851G > C p.(Trp284Ser) |
43 | 9 | F | Nemaline myopathy | Frquent falls, tip toeing | None | Yes | WES | TPM2 | Heterozygous | c.20_22del p.(Lys7del) |
44 | 3 | F | HSP | Motor delay, Progressive lower limb spasticity | None | Yes | WES | HACE1 | Homozygous | c.2212-2A > C |
45 | 6 | M | AR congenital disorder glycosylation type 2L | Progressive lower limb spasticity | None | Yes | WES | COG6 | Homozygous | c.695-8T > G |
46 | 2 | F | Harel-Yoon syndrome | Motor delay | None | Yes | WES | ATAD3A | Heterozygous | c.1726C > T p.(Arg576Trp) |
47 | 4 | F | Infantile neuroaxonal dystrophy | Motor delay, Progressive lower limb spasticity | None | Yes | WES | PLA2G6 | Heterozygous | c.2370T > G p.(Tyr790*) |
48 | 13 | F | Marinesco-Sjögren syndrome | Ataxia, areflexia, cataract | None | Yes | WES | SIL1 | Homozygous | c.1030-9G > A |
49 | 10 | M | Mental retardation type 36 | Motor delay | None | Yes | WES | ADAT3 | Homozygous | c.430G > A p.(Val144Met) |
50 | 11 | F | Mental retardation type 36 | Motor delay | None | Yes | WES | ADAT3 | Homozygous | c.430G > A p.(Val144Met) |
51 | 2 | F | Non-5q SMA | Bilateral DDH, Frquent falls, distal weakness | None | Yes | WES | DYNC1H1 | Heterozygous | c.751C > T p.(Arg251Cys) |
52 | 16 | F | Central Core Myopathy | Proximal muscle weakness, high CK | None | Yes | WES | RYR1/PLEKHG5 | Het./Hom | c.5340_5341del p.(Cys1781Phefs*76)/ c.2081C > A p.(Thr694Asn) |
53 | 2 | M | AR mental retardation type 27 | Motor delay, Progressive lower limb spasticity | None | Yes | WES | LINS1 | Homozygous | c.2032C > T p.(Pro678Ser) |
54 | 5 | M | Proximal myopathy | Ataxia, high CK | None | Yes | WES | MICU1 | Homozygous | c.503del p.(Leu168Argfs*5) |
55 | 7 | M | CMT | Walking difficulty, scoliosis | None | Yes | WES | SH3TC2 | Heterozygous | c.957del p.(Phe320Leufs*7) |
56 | 2 | F | Riboflavin transporter deficiency | Swallowing issues, SNHL | None | Yes | WES | SLC52A3 | Homozygous | c.670T > C p.(phe224-to-leu) |
57 | 7 | M | Sjögren–Larsson syndrome | Progressive lower limb spasticity, icthyosis | None | Yes | WES | ELOVL1 | Heterozygous | c.494C > T p.(Ser165Phe) |
58 | 11 | M | Ullrich congenital muscular dystrophy | Hypotonia, contractures, scoliosis | Ullrich dystrophy | No | Panel | COL6A3 | Heterozygous | The c.6210 + 1G > A p.? |
