Table 2.
A summary of the reported pathogenic/likely pathogenic mutations of SLC29A3 gene
| Nucleotide change | Genotype | Consequence | (Clinical significance) Main Phenotypes | Family origin | Reference/ (variation ID in ClinVar) |
|---|---|---|---|---|---|
| c.243delA | Homo | p.Lys81Asnfs |
Pathogenic Nasal infiltration, Pancreatic exocrine deficiency, Insulin-dependent diabetes, Contractures of the fingers, Contractures of the toes, Retroperitoneal fibrosis |
Moroccan | [17] |
| c.308-309delTT | Hetero | p.Phe103Terfs |
(Pathogenic) Histiocytosis, Rosai-Dorfman disease |
Turkish and Palestinian | [10] |
| c.300 + 1G > A (IVS2 + 1G > A)a | Homo | Splice site | Pakistani | ||
| c.73C > T | – | p.Arg25Ter |
(Likely pathogenic) Histiocytosis-lymphadenopathy plus syndrome |
– | (ID: 212200) |
| c.300 + 1G > C | – | Splice site |
(Pathogenic) not provided |
(ID: 427021) | |
| c.347 T > G | Homo | p.Met116Arg |
(Pathogenic) insulin-dependent diabetes mellitus and pigmented hypertrichotic skin lesions |
Australian Lebanese | [8] |
| c.940delT | p.Tyr314ThrfsTer91 | Indian | |||
| c.1309G > A | p.Gly437Arg | Pakistani | |||
| c.1330G > T | p.Glu444Ter | North American Caucasian | |||
| c.1346C > G | p.Thr449Arg | Australian Lebanese | |||
| c.479G > A | – | p.Trp160Ter |
(Pathogenic) Histiocytosis-lymphadenopathy plus syndrome |
– | (ID: 573984) |
| c.607 T > C | Hetero | p.Ser203Pro |
(Pathogenic) Dysosteosclerosis |
– | [11] |
| c.1157G > A | p.Arg386Gln | ||||
| c.1346C > G | Homo | p.Thr449Arg | |||
| c.714_715invTG | – | p.Val239Ile |
(Likely pathogenic) Histiocytosis-lymphadenopathy plus syndrome |
– | (ID: 300363) |
| c.1001A > G | – | p.Asn334Ser |
(Likely pathogenic) Histiocytosis-lymphadenopathy plus syndrome |
– | (ID: 300368) |
| c.1045delC | Homo | p.Leu349Serfs |
(Pathogenic) Hyperpigmentation, Fixed flexion contractures of proximal interphalangeal joints, Hallux valgus, Prominent gynecomastia, histiocytic and dendritic infiltrate |
Bulgarian | [18] |
| c.1087C > T | p.Arg363Trp | Spanish | [4] | ||
| c.1088G > A | p.Arg363Gln | Arab | |||
| c.1228C > T | – | p.Gln410Ter |
(Pathogenic) Histiocytosis-lymphadenopathy plus syndrome |
– | (ID: 130338) |
| c.1279G > A | Hetero | p.Gly427Ser |
(Pathogenic) seronegative polyarthritis, hypogonadotropic hypogonadism, hearing loss, Proptosis, Arthropathy, Camptodactyly, Delayed puberty, Polyclonal gammopathy |
Arab | [7] |
| c.307-308delTT | Homo | p.Phe103Terfs |
(Pathogenic) Hearing loss, Camptodactyly, Polyclonal gammopathy, Arthropathy, Delayed puberty, Rheumatoid arthritis |
Iranian | This report |
aIVS InterVening Sequence (i.e. an intron)