IthaID: 3407
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)JS | HGVS Name: | NC_000016.10:g.46628_126325del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion spans approximately 80 kb of DNA, extending from the POLR3K gene to the downstream region of the NPRL3 gene. The deletion removes the POLR3K, SNRNP25, RHBDF1, MPG and NPRL3 genes, as well as the MCS-R1, -R2 and -R3 elements upstream of the α-globin gene cluster. The α-globin genes remain intact. The deletion is the result of Alu-mediated homologous recombination. The proband is heterozygous for the deletion with haematological characteristics similar to those manifested with the --SEA deletion (Hb: 109 g/L, MCV: 66 fL, MCH: 20.3 pg, HbF: 0.3%, and HbA2: 2.7%).
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 79.698 kb |
| Deletion involves: | HS40, NPRL3 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Li Z, Shang X, Luo S, Zhu F, Wei X, Zhou W, Ye Y, Yan T, Cai R, Xu X, Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α-thalassemia by targeted next-generation sequencing., Mol. Genet. Genomics, 295(2), 505-514, 2020
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Li Zhiming | 2019-04-14 | First report. |
Created on 2019-04-15 11:42:44,
Last reviewed on 2021-03-19 12:09:59 (Show full history)
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