Table 2 Information of the LAMA2 mutation analysis.
Subject | LAMA2 exon/intron | Nucleotide change | Predicted amino acid change | Novel/reported | Parental derivation | Methods Used to Obtain the Predicted Breakpoint Junctions in Unique Regions | ||
|---|---|---|---|---|---|---|---|---|
NGS | aCGH | Long-range PCR | ||||||
P1 | Out-of-frame deletion 50 | Exon1del c.7147C > T | p.R2383* | Novel Reported38 | Maternal Paternal | NA | S | NA |
P2 | Out-of-frame deletion 56 | Exon1del c.7810C > T | p.R2604* | Novel Reported7 | Maternal Paternal | S | NA | NA |
P3 | Out-of-frame deletion IVS35 | Exon2-3del c.5071 + 1G > A | Reported7 Reported7 | Paternal Maternal | NA | S | NA | |
P4 | In-frame deletion 47 | Exon2-9del c.6584T > C | p.L2195P | Novel Novel | Paternal Maternal | NA | S | NA |
P5 | Out-of-frame deletion 63 | Exon2-12del c.8906G > C | p.R2969P | Novel Novel | Maternal Paternal | S | NA | NA |
P6 | Out-of-frame deletion Out-of-frame deletion | Exon3-4del Exon3-4del | Reported7 Reported7 | Maternal Paternal | NA | S | NA | |
P7 | In-frame deletion 27 | Exon4del c.3955C > T | p.R1319* | Reported7 Reported7 | Paternal Maternal | NA | S | NA |
P8 | In-frame deletion In-frame deletion | Exon4del Exon4del | Reported7 Reported7 | Paternal Maternal | NA | S | NA | |
P9 | In-frame deletion In-frame deletion | Exon4del Exon4del | Reported7 Reported7 | Paternal Maternal | NA | S | NA | |
P10 | In-frame deletion 19 | Exon4del c.2565delC | p.S856Lfs*32 | Reported7 Reported7 | Paternal Maternal | NA | S | NA |
P11 | In-frame deletion 57 | Exon4del c.7921G > T | p.E2641* | Reported7 Reported7 | Paternal Maternal | NA | S | NA |
P12 | In-frame deletion 50 | Exon4del c.7147C > T | p.R2383* | Reported7 Reported38 | Paternal Maternal | NA | NA | S |
P13 | In-frame deletion 6 | Exon4del c.830C > T | p.S277L | Reported7 Reported39 | Maternal Paternal | NA | NA | S |
P14 | In-frame deletion 50 | Exon4del c.7147C > T | p.R2383* | Reported7 Reported38 | Paternal Maternal | NA | NA | S |
P15 | In-frame deletion 14 | Exon5del c.2049_2050delAG | p.R683Sfs*21 | Reported7 Reported40 | Maternal Paternal | NA | S | NA |
P16 | In-frame duplication 37 | Exon5-8dup c.5290_5291insG | p.E1764Gfs*3 | Novel Reported41 | Maternal Paternal | S | NA | NA |
P17 | Out-of-frame deletion 64 | Exon10-12del c.9101_9104dup | p.H3035Qfs*5 | Reported7 Reported8 | Paternal Maternal | S | F | NA |
P18 | Out-of-frame deletion IVS21 | Exon13-14del c.3038-7G > A | Novel Novel | Maternal Paternal | S | NA | NA | |
P19 | Out-of-frame deletion 46 | Exon20del c.6466C > T | p.R2156* | Novel Reported42 | Paternal Maternal | S | NA | NA |
P20 | Out-of-frame deletion 63 | Exon30del c.8906G > C | p.R2969P | Novel Novel | Maternal Paternal | S | NA | NA |
P21 | Out-of-frame deletion 10 | Exon36-65del/c.1358G > C | p.C453S | Reported6 Reported6 | Paternal Maternal | F | F | NA |
P22 | Out-of-frame deletion 4 | Exon41-47del c.482_485dup | p.E162Dfs*1 | Reported7 Reported7 | Maternal Paternal | NA | S | NA |
P23 | Out-of-frame deletion 18 | Exon49del c.2526_2529insACGC | p.C844Tfs*3 | Novel Novel | Maternal Paternal | S | F | NA |
P24 | Out-of-frame deletion 50 | Exon49del c.7174C > T | p.R2383* | Novel Reported38 | Paternal Maternal | S | NA | NA |
P25 | Out-of-frame deletion 46 | Exon49-57del c.6433A > T | p.K2145* | Novel Novel | Paternal Maternal | S | NA | NA |
P26 | In-frame deletion 3 | Exon59-63del c.363C > G | p.Y121* | Reported7 Reported7 | Paternal Maternal | NA | S | NA |
P27 | In-frame deletion 63 | Exon59-63del c.8906G > C | p.R2969P | Reported7 Novel | Paternal Maternal | S | NA | NA |
P28 | In-frame deletion 22 | Exon59-63del c.3146del | p.G1050Afs*25 | Reported7 Novel | Maternal Paternal | S | NA | NA |
P29 | Out-of-frame deletion 27 | c.8910_8965del c.4048C > T | p.T2921Yfs*2 p.R1350* | Novel Reported43 | Maternal Paternal | S | F | NA |
