Table 1 Clinical features of individuals homozygous for MNS1 NM_018365.2:c.407_410del; p.(Glu136Glyfs*16)
From: MNS1 variant associated with situs inversus and male infertility
ID | Sex | Age (years) | Laterality defects | Dextrocardia | PCD symptoms | Fertility | Congenital malformations | MNS1 genotype |
|---|---|---|---|---|---|---|---|---|
VII-9 | M | 74 | Situs inversus | ✓ | Nil | Infertile | Nil | +/+ |
VIII-15 | M | 39 | Situs inversus | ✓ | Nil | N/A (no children) | Nil | +/+ |
IX-1 | M | 18 | Situs inversus | ✓ | Recurrent otitis media | N/A (no children) | Nil | +/+ |
IX-2 | F | 27 | Situs inversus | ✓ | Nil | Fertile | Nil | +/+ |
IX-4 | M | 24 | Nil | × | Nil | N/A (no children) | Nil | +/+ |
IX-5 | F | 5 m | Heterotaxy | ✓ | N/K | Deceased aged 5 m | Asplenia | N/K |
IX-6 | M | 11 | Nil | × | Nil | N/A | Nil | +/+ |
