Table 4.
Genetic anomalies in ciliogenesis and ciliary trafficking in TGA patients. Missense, splicing, and nonsense anomalies of ciliary genes found in patients with transposition of the great arteries.
| Patient | Gene | dbSNP | NT Change | CQ | AA Change | SIFT | PP2. HumDiv | PP2. HumVar | Mutation Assesor | Allele Freq | OMIM | Mend | Variant Associated |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T180101 Male |
SAXO2 | rs116324279 | c.1111T>C | M | p.S371P | T (0.04) | PD (0.87) | PD (0.63) | M (2.14) | 5.65 × 10−4 | ND | HE | No |
| T180201 Male |
PIBF1 | rs17089782 | c.1214G>A | M | p.R405Q | D (0) | PD (1) | PD (0.99) | M (2.56) | 0.1021 | AR | HE | Jb |
| UBXN10 | rs11556959 | c.794A>G | M | p.H265R | D (0.01) | PD (0.98) | PD (0.82) | M (2.32) | 2.60 × 10−4 | NR | HE | No | |
| T180301 Male |
TTLL6 | rs184362955 | c.517C>T | M | p.R173W | D (0) | PD (1.0) | PD (1.0) | H (4.64) | 8.89 × 10−3 | NR | HE | No |
| T180701 Female |
TRPV4 | rs187864727 | c.649G>T | M | p.A217S | T (0.13) | PD (1.0) | PD (0.99) | M (2.00) | 6.85 × 10−2 | AD | HE | NEDY |
| IFT46 | rs145438119 | c.454C>G | M | p.P152A | D (0.01) | PD (1.0) | PD (1.0) | M (3.25) | 3.16 × 10−3 | AR | HE | No | |
| MORN3 | rs782293129 | c.616G>C | M | p.A206P | D (0) | PD (1.0) | PD (1.0) | M (2.87) | 2.03 × 10−4 | ND | HE | No | |
| TRAF3IP1 | rs761035757 | c.838C>T | M | p.R280W | D (0.01) | PD (0.99) | PD (0.91) | L (1.79) | 2.56 × 10−4 | AR | HE | No | |
| T180801 Male |
TRPV4 | rs187864727 | c.649G>T | M | p.A217S | T (0.13) | PD (1.0) | PD (0.99) | M (2.00) | 6.85 × 10−2 | AD | HE | NEDY |
| PIBF1 | rs17089782 | c.1214G>A | M | p.R405Q | D (0) | PD (1.0) | PD (0.96) | M (2.56) | 0.1021 | AR | HO | Jb | |
| OFD1 | rs779051357 | c.2482T>G | M | p.F828V | T (0.07) | PD (0.90) | PD (0.59) | M (2.43) | 5.17 × 10−5 | XLD | HEMY | No | |
| T180901 Male |
MORN1 | rs34587196 | c.757C>T | M | p.R253W | D(0) | PD (1.0) | PD (0.99) | M (2.25) | 6.57 × 10−3 | NR | HE | No |
| ARMC9 | rs386656198 | c.878C>T | M | p.T293M | T (1) | PD (1.0) | D (0.98) | M (2.33) | 5.24 × 10−4 | AR | HE | No | |
| T181001 Female |
NEK11 | rs140058289 | c.127G>C | M | p.V43L | D (0.01) | PD (0.93) | PD (0.52) | M (3.41) | 4.80 × 10−2 | NR | HE | No |
| OFD1 | New | c.2610G>C | M | p.Q870H | D (0.04) | PD (0.89) | PD (0.63) | M (2.12) | New | XL | HEMY | No | |
| T181201 Male |
AGBL2 | rs7941404 | c.956G>A | M | p.R319H | T (0.09) | PD (0.99) | PD (0.91) | M (2.49) | 9.9 × 10−5 * | NR | HE | No |
| PIBF1 | rs17089782 | c.1214G>A | M | p.R405Q | D (0) | PD (1.0) | PD (0.99) | M (2.56) | 0.1021 | AR | HO | Jb | |
| T181401 Male |
BBS7 | rs199891330 | c.508A>G | M | p.R170G | D (0.02) | PD (1.0) | PD (0.99) | M (2.66) | 9.84 × 10−4 | AR | HE | No |
| SPATA4 | rs765034017 | c.599A>C | M | p.N200T | D (0.02) | PD (0.98) | PD (0.88) | M (2.17) | 8.67 × 10−5 | ND | HE | No |
Allele frequency in the Latin population or if data is unavailable, an asterisk (*) represents global frequency. dbSNP: Single Nucleotide Polymorphism database; AA: Amino acid; NT: Nucleotide; CQ: Consequence; M: Missense, N: Nonsense; F: Frameshift; SIFT: PP2: Polyphen2; Freq: Frequency; Mend: Mendelian inheritance; OMIM: Online Mendelian Inheritance of Man; PD: Probably/Possibly damaging; B: Benign; L: Lo; M: Medium; H: High; N: Neutral; T: Tolerated; Del/D: Deleterious. AD: Autosomic dominant; AR: Autosomic recessive; NF: Not found; HETO: Heterozygous; HOMO: Homozygous; HEMY: Hemizygous; Jb: Joubert; NEDY: Neuromuscular dysplasia.