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Table 2 A summary of the reported pathogenic/likely pathogenic mutations of SLC29A3 gene

From: A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

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

  1. aIVS InterVening Sequence (i.e. an intron)