Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.
Pediatr Rheumatol Online J
; 15(1): 72, 2017 Sep 26.
Article
em En
| MEDLINE
| ID: mdl-28950892
ABSTRACT
BACKGROUND:
Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple genes that have only modest effect on disease susceptibility.METHODS:
Three Moroccan siblings, born from non-consanguineous Moroccan healthy parents were referred for genetic evaluation of familial scleroderma. Whole Exome Sequencing was performed in the proband and his parents, in addition to Sanger sequencing that was carried out to confirm the results obtained.RESULTS:
Mutation analysis showed two compound heterozygous mutations c.196C>T in exon 4 and c.635_636delTT in exon 9 of GNPTG gene. Sanger sequencing confirmed these mutations in the affected patient and demonstrated that their parents are heterozygous carriers.CONCLUSION:
Our findings expand the mutation spectrum of the GNPTG gene and extend the knowledge of the phenotype-genotype correlation of Mucolipidosis Type III gamma. This report also highlights the diagnostic utility of Next Generation Sequencing particularly when the clinical presentation did not point to specific genes.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Escleroderma Sistêmico
/
Transferases (Outros Grupos de Fosfato Substituídos)
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Mucolipidoses
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
En
Revista:
Pediatr Rheumatol Online J
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Marrocos