Identification of a Novel TAZ Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome
J. inborn errors metab. screen
;
3: e140014, 2015. tab, graf
Article
Dans Anglais
|
LILACS-Express
| LILACS
| ID: biblio-1090872
ABSTRACT
Abstract Mutations in the tafazzin (TAZ) gene on chromosome Xq28 are responsible for the Barth syndrome (BTHS) phenotype resulting in a loss of function in the protein tafazzin involved in the transacylation of cardiolipin, an essential mitochondrial phospholipid. TAZ gene was investigated in the proband in our study, who died of dilated cardiomyopathy at 8 months of age, and his family by sequencing to identify the genetic cause of BTHS. Molecular analysis revealed a novel mutation in exon 5 (c.520T>G) of the TAZ gene. This novel mutation c.520T>G, pW174G, was also found in female carriers (mother and grandmother of proband) in the family. Bioinformatic analysis was carried out to examine the effect of mutation in the gene and confirmed the deleterious effect of this single mutation to the protein structure. Protein modeling and 3-dimensional structure of TAZ protein demonstrated the significantly visible changes in mutated protein leading to BTHS phenotype. Prenatal diagnosis in a subsequent pregnancy showed a carrier female, and pregnancy was continued. Child is doing well at 1 year of age.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Type d'étude:
Etude diagnostique
langue:
Anglais
Texte intégral:
J. inborn errors metab. screen
Thème du journal:
Medicina Cl¡nica
/
Patologia
Année:
2015
Type:
Article
Pays d'affiliation:
Inde
Institution/Pays d'affiliation:
Institute of Cytology and Preventive Oncology/IN
/
Maulana Azad Medical College/IN
/
Sir Ganga Ram Hospital/IN
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