OMIM: 201100Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SLC39A4 |
|---|
| Dna Change: | c.1223_1227delCCGGG |
|---|
| Protein Change: | p.Trp411ArgfsX7 |
|---|
| Mutation Type: | Deletion |
|---|
| Mutation Effect: | Frameshift |
|---|
| Location: | exon 7 |
|---|
| Transcript: | NM_130849.2 |
|---|
| Gene/Locus: | SLC39A4 |
|---|
| Dna Change: | c.143T>G |
|---|
| Protein Change: | p.Leu48X |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Nonsense |
|---|
| Location: | exon 1 |
|---|
| Transcript: | NM_130849.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Tunisia | NA | NA | 3 unrelated families | NA | Schmitt S et al., 2009Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S, . An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.. Hum. Mutat.. 2009; 30(6):926-33 |
| Tunisia | NA | NA | 3 patients/ 3 families | NA | Küry S et al., 2003Küry S, Kharfi M, Kamoun R, Taïeb A, Mallet E, Baudon JJ, Glastre C, Michel B, Sebag F, Brooks D, Schuster V, Scoul C, Dréno B, Bézieau S, Moisan JP, . Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.. Hum. Mutat.. 2003; 22(4):337-8 |
References
Küry S, Kharfi M, Kamoun R, Taïeb A, Mallet E, Baudon JJ, Glastre C, Michel B, Sebag F, Brooks D, Schuster V, Scoul C, Dréno B, Bézieau S, Moisan JP, Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.Hum. Mutat.. 2003; 22(4):337-8
Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S, An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.Hum. Mutat.. 2009; 30(6):926-33