Analysis of a novel JAG1 variant and clinical phenotype in a family affected with Alagille syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 545-548, 2021.
Article
ي Zh
| WPRIM
| ID: wpr-879622
المكتبة المسؤولة:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a pedigree affected with Alagille syndrome (ALGS).@*METHODS@#Targeted capture and next generation sequencing was carried out for the proband. Candidate variants were verified by Sanger sequencing among his family members. Their pathogenicity of the variant was predicted with bioinformatic analysis. Clinical characteristics and genotype-phenotype correlation were analyzed.@*RESULTS@#The proband, his elder sister and mother were found to carry a heterozygous c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene, which may lead to premature termination of translation and a truncated protein with loss of function. The variant was unreported previously. The phenotypes of the proband (cholestasis, pulmonary artery stenosis and peculiar faces) have differed from those of his elder sister (cholestasis with pruritus, posterior embryonic ring of cornea) and mother (with no clinical manifestation). Cholestasis and peculiar face of the proband became insignificant with age.@*CONCLUSION@#The c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene probably underlay the ALGS in this pedigree with incomplete penetrance.
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Pedigree
/
Phenotype
/
Alagille Syndrome
/
High-Throughput Nucleotide Sequencing
/
Heterozygote
نوع الدراسة:
Prognostic_studies
المحددات:
Aged
/
Humans
اللغة:
Zh
مجلة:
Chinese Journal of Medical Genetics
السنة:
2021
نوع:
Article