A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
; : 581-587, 2019.
Article
en En
| WPRIM
| ID: wpr-760882
Biblioteca responsable:
WPRO
ABSTRACT
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Piel
/
Biopsia
/
Simulación por Computador
/
Colestasis
/
Transporte de Proteínas
/
Diagnóstico Diferencial
/
Exoma
/
Riñón
/
Hígado
/
Sistema Musculoesquelético
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Pediatric Gastroenterology, Hepatology & Nutrition
Año:
2019
Tipo del documento:
Article