Table 1.
Overview of the LRRC6 pathogenic mutations
| Genotype | cDNA changes | Protein changes | Fertility | References |
|---|---|---|---|---|
| Compound heterozygous |
c.574C>T c.576dupA |
p.Gln192* p.Glu193Argfs*4 |
Asthenospermia | Kott et al. [11] |
|
c.598_599delAA c.436G>C |
p.Lys200Glufs*3 p.Lys200Glufs*3 |
Asthenospermia | Kott et al. [11] | |
|
c.259 T>C c.436G>C |
p.Cys87Arg p.Asp146His |
NM | Zariwala et al. [13] | |
|
c.183T>G c.179-1G>A |
p.N61K | Infertility | Liu and Luo [14] | |
| Homozygous | c.220G>C | p.Ala74Pro | Asthenospermia | Kott et al. [11] |
| c.169_173delinsTCCCAAT | p.Gly57Serfs*3 | NM | Zariwala et al. [13] | |
| c.562C>T | p.Gln188* | NM | Zariwala et al. [13] | |
| c.630delG | p.Trp210Cysfs*12 | NM | Zariwala et al. [13] | |
| c.598_599delAA | p.Lys200Glufs*3 | Asthenospermia/hypofertility/NR | Kott et al. [11], Zariwala et al. [13] | |
| c.653+1G>A | splice | NM | Zariwala et al. [13] | |
| c.710_711delCA | p.Thr237Lysfs*7 | NM | Zariwala et al. [13] | |
| c.891delA | p.Ala298Profs*2 | NM | Zariwala et al. [13] | |
| c.169_174delins8 | p.Gly57Serfs*2 | NM | ||
| c.436G>C | p.Asp146His | NM | Horani et al. [12] | |
| c.64dupT | p.S22fs | NM | Yue et al. [15] |
NR not relevant, NM not mentioned