First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
BMC Med Genomics
; 15(1): 136, 2022 06 18.
Article
em En
| MEDLINE
| ID: mdl-35717189
ABSTRACT
BACKGROUND:
Uniparental disomy (UPD) is a condition in which both chromosomes are inherited from the same parent, except for imprinting disorders. Uniparental isodisomy (UPiD) may result in a homozygous variant contributing to an autosomal recessive disorder in the offspring of a heterozygous carrier. Junctional epidermolysis bullosa intermediate (JEB intermediate) is an autosomal recessive inherited disease that is associated with a series of gene variants, including those of COL17A1. CASE PRESENTATION We report the first case of complete paternal UPiD of chromosome 10 harbouring a novel homozygous variant in COL17A1 c.1880(exon23)delG (p.G627Afs*56). This variant led to the clinical phenotype of junctional epidermolysis bullosa intermediate in a 5-year-old child. Trio-whole exome sequencing (Trio-WES) and in silico data analysis were used for variant identification, Sanger sequencing was performed for variant validation, and pathological examination was performed as the gold standard for phenotype confirmation.CONCLUSIONS:
We recommend the use of WES as a first-tier test for the diagnosis of epidermolysis bullosa, especially for paediatric patients. Moreover, UPD events should be detected and analysed routinely through WES data in the future.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Epidermólise Bolhosa Juncional
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Child
/
Child, preschool
/
Humans
Idioma:
En
Revista:
BMC Med Genomics
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China