Table 2 Causative mutations and potentially pathogenic variants identified in this study.
From: Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population
Sample ID | Gene | Gender | Genotype | cDNA change | Protein change | Rs number | GMAF a | AA_MAF b | EA_MAF c | Disease presentation | Reference (PMID) d |
|---|---|---|---|---|---|---|---|---|---|---|---|
Pathogenic prediction of the existing variants | |||||||||||
190 | DMPK | M | Heterozygous | c.1790T>A | p.Val597Asp | rs201332435 | T:0.0022 | – | – | Myotonic dystrophy | 7543316 |
135 | LAMA2 | M | Compound Heterozygous | c.2217G>T | p.Trp739Cys | rs192317605 | T:0.0016 | – | – | Merosin-deficient congenital muscular dystrophy type 1A | 7550355 |
c.4640C>T | p.Thr1547Met | rs778106503 | – | – | – | ||||||
143 | MECP2 | F | Heterozygous | c.156C>G | p.His52Gln | rs781819534 | – | – | – | Rett syndrome | 17089071 |
202 | MPZ | M | Heterozygous | c.77C>T | p.Pro26Leu | rs530923760 | A:0.0002 | – | – | Charcot-Marie-Tooth disease | 8816708 |
58 | RYR1 | F | Heterozygous | c.5746G>C | p.Gly1916Arg | rs746965897 | - | - | - | Central core disease; Multi-minicore disease; King-Denborough syndrome | 12112081 |
18765655 | |||||||||||
120 | RYR1 | M | Heterozygous | c.425-1G>A | Mis-splicing | rs745526344 | – | – | – | ||
141 | RYR1 | M | Heterozygous | c.4113G>C | p.Arg1371Ser | rs551509462 | C:0.0008 | – | – | ||
175 | RYR1 | M | Heterozygous | c.8417G>A | p.Arg2806His | rs778214809 | – | – | – | ||
179 | RYR1 | M | Heterozygous | c.14707G>A | p.Glu4903Lys | rs372418113 | – | A:0 | A:0.0001 | ||
Ten patients carrying mutations reported in the primary literatures | |||||||||||
194 | MECP2 | M | Hemizygous | c.590C>T | p.Thr197Met | rs61749714 | A:0.0003 | A:0.0008 | A:0.0003 | Rett syndrome | 12180070 |
61 | MECP2 | F | Heterozygous | c.602C>T | p.Ala201Val | rs61748381 | A:0.0048 | A:0.0003 | A:0.0007 | 12180070 | |
115 | MECP2 | F | Heterozygous | c.602C>T | p.Ala201Val | rs61748381 | A:0.0048 | A:0.0003 | A:0.0007 | 12180070 | |
207 | MECP2 | F | Heterozygous | c.602C>T | p.Ala201Val | rs61748381 | A:0.0048 | A:0.0003 | A:0.0007 | 12180070 | |
187 | MECP2 | M | Hemizygous | c.808delC | p.Arg270GlufsX19 | rs62931162 | – | – | – | 10991688 | |
162 | MUT | M | Compound Heterozygous | c.1280G>A | p.Gly427Asp | rs753288303 | – | – | – | Methylmalonicacidemia | 16281286 |
c.729_730insTT | p.Asp244LeufsX39 | rs780283588 | – | – | – | ||||||
217 | MUT | M | Heterozygous | c.1208G>A | p.Arg403Gln | rs774457503 | – | – | – | Methylmalonicacidemia | 23430940 |
137 | CDKL5 | M | Hemizygous | c.216T>A | p.Ile72= | rs267608439 | – | – | – | Rett syndrome | 17089071 |
213 | MPZ | M | Heterozygous | c.389A>G | p.Lys130Arg | rs281865127 | – | – | – | Charcot-Marie-Tooth disease | 8938258 |
216 | PMM2 | F | Heterozygous | c.422G>A | p.Arg141His | rs28936415 | A:0.0036 | – | – | Congenital disorder of glycosylation 1a | 9140401 |
Five patients carrying novel mutations predicted to be pathogenic | |||||||||||
Patients carrying novel LOF mutations | |||||||||||
219 | MTM1 | M | Hemizygous | c.231+2T>C | Mis-splicing | – | – | – | – | Myotubular myopathy, X-linked | 9450905 |
202 | MPZ | M | Heterozygous | c.632delA | p.Lys211SerfsX41 | - | - | - | - | Charcot-Marie-Tooth disease | 8816708 |
Patients carrying one or more novel missense mutations | |||||||||||
120 | RYR1 | M | Heterozygous | c.6982G>A | p.Gly2328Arg | – | – | – | – | Central core disease; Multi-minicore disease; King-Denborough syndrome | 12112081 |
232 | RYR1 | F | Compound Heterozygous | c.658C>T | p.Arg220Cys | – | – | – | – | 18765655 | |
c.4715T>C | p.Met1572Thr | – | – | – | – | ||||||
252 | MTM1 | M | Hemizygous | c.1237A>C | p.Ser413Arg | – | – | – | – | Myotubular myopathy, X-linked | 9450905 |
