Alagille Syndrome: A Novel Mutation in JAG1 Gene

Frontiers in Pediatrics

article

Rita Fischetto¹  Viviana V. Palmieri²  Maria E. Tripaldi²  Alberto Gaeta³  Angela Michelucci⁴  Maurizio Delvecchio⁵  Ruggiero Francavilla²  Paola Giordano² 

[1] Clinical Genetics Unit, Department of Paediatric Medicine, Giovanni XXIII Children's Hospital;Pediatric Section, Department of Biomedicine and Human Oncology, University A. Moro;PediatricRadiology Unit, Giovanni XXIII Children's Hospital;Laboratory of Molecular Genetics, University Hospital of Pisa;Pediatrics Unit, “Madonna delle Grazie” Hospital

关键词: Alagille syndrome;    JAG1;    stop codon mutation;    Next Generation Sequencing;    hypertransaminasemia;   

DOI  :  10.3389/fped.2019.00199

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Alagille syndrome is an autosomal dominant multisystem disorder with variable phenotypic penetrance, caused by heterozygous mutations in JAG1 or NOTCH2 , encoding for the components of the Notch signaling pathway. In this paper, we described a novel mutation not yet reported in literature. This 3-years old male child was referred to our Clinical Genetics Unit because of delayed psychomotor development, systolic murmur, dysmorphic facial features, and hypertransaminasemia. The novel JAG1 heterozygous c.2026delT variant in exon 16 was found. JAG1 mutations are classified as protein truncating and non-protein truncating, without any genotype-phenotype correlation. The detected mutation determines a stop codon (p.Cys676AlafsTer67) in the gene sequence, encoding a truncated protein. Our report broadens the spectrum of JAG1 gene mutations.

【 授权许可】

CC BY