Pediatrics & Health Research Open Access

WES reveals Novel Heterozygous NBAS Gene Mutations in a patient with SOPH syndrome associated with Fanconi Syndrome: A Case Report

World Congress on Diabetes and Pediatric Endocrinology

AUGUST 20-21, 2021 Webinar

Thong Jia Yean

University Malaya Medical Centre, Malaysia

Scientific Tracks Abstracts: Ped Hea Res

Abstract:

Variations in the NBAS gene is known to cause a spectrum of phenotypes ranging from isolated recurrent acute liver failure (RALF) to a multisystem presentation known as SOPH syndrome. Patients with SOPH present with optic atrophy, acute liver failure, short stature, and Pelger-Huet anomaly. We report the presence of a novel pair of biallelic heterozygous mutation (c.5139-5T>G and c.2203-2A>G) in the NBAS gene of a patient with SOPH syndrome. A 9-year-old patient was clinically diagnosed with SOPH following clinical laboratory analyses. Current interventions for managing the disease encompass IVIG, methylprednisolone, calcium, and vitamin D administration. Whole-exome sequencing (WES) results showed two mutations: c.5139-5T>G and c.2203-2A>G, in the NBAS gene, which had not been previously reported. Notably, we hypothesize that NBAS mutations could potentially contribute to the development of Fanconi syndrome, a clinical finding reported in our patient. Our study also supports the renaming of SOPH to SOPHIA to allow early detection and effective treatment. Keywords: Short Stature, Optic Atrophy, Pelger-Huet Anomaly, Neuroblastoma Amplified Sequence, Whole- Genome Sequencing, Myopia, Case Report, Acute Liver Failure, Fanconi Syndrome.

Biography :

Thong Jia Yean completed my MBBS degree from Shanghai Medical College, Fudan University in 2020. At the present moment, Thong Jia Yean serve as a house officer at University Malaya Medical Centre, a university hospital located in Kuala Lumpur, Malaysia.