Dyggve-Melchior-Clausen disease
OMIM:223800Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | DYM |
|---|---|
| Reference transcript | NM_017653.3 |
| DNA Change | c.1125+1G>T |
| A.A. Change | |
| Exon/Intron | intron 10 |
| Mutation Type | substitution |
| Reference | El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V.Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet. 2003 Feb 1;12(3):357-64. |
| Gene Symbol | DYM |
|---|---|
| Reference transcript | NM_017653.3 |
| DNA Change | c.656T>G |
| A.A. Change | p.Leu219X |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V.Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet. 2003 Feb 1;12(3):357-64. |
| Gene Symbol | DYM |
|---|---|
| Reference transcript | NM_017653.3 |
| DNA Change | c.610C>T |
| A.A. Change | p.Arg204X |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V.Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet. 2003 Feb 1;12(3):357-64. |
| Gene Symbol | DYM |
|---|---|
| Reference transcript | NM_017653.3 |
| DNA Change | c.1447C>T |
| A.A. Change | p.Glu483X |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V.Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet. 2003 Feb 1;12(3):357-64. |
| Gene Symbol | DYM |
|---|---|
| Reference transcript | NM_017653.3 |
| DNA Change | c.1878delA |
| A.A. Change | p.K626NfsX94 |
| Exon/Intron | exon 17 |
| Mutation Type | deletion |
| Reference | Elalaoui SC, Mariam T, Ilham R, Yassamine D, Abdelaziz S.A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review. Indian J Hum Genet. 2011 May;17(2):97-9. |