Asploro Journal of Pediatrics and Child Health

Asploro Journal of Pediatrics and Child Health

Jia Yean Thong^1#, Zifeng Li^2#, Alice Halim^1#, Xiaochuan Wang³, Michael Halim^4*, Xiaowen Zhai^2*
1Zhongshan Hospital, Shanghai Medical College of Fudan University, Shanghai, China
²Department of Hematology and Oncology, Children’s Hospital of Fudan University, China
³Department of Immunology, Children’s Hospital of Fudan University, China
⁴University of Salford, MSc Biomedical Science, Greater Manchester, United Kingdom

Corresponding Author(s): Michael Halim^* and Xiaowen Zhai^**
Address: ^*University of Salford, MSc Biomedical Science, Greater Manchester, United Kingdom. ^**Department of Hematology and Oncology, Children’s Hospital of Fudan University, No. 399 Wanyuan Rd, Minhang District, Shanghai 201102, China.
Received date: 11 January 2021; Accepted date: 12 February 2021; Published date: 20 February 2021

Citation: Thong JY, Li Z, Halim A, Wang X, Halim M, Zhai X. WES Reveals Novel Heterozygous NBAS Gene Mutations Associated with Fanconi Syndrome in a Patient with SOPH Syndrome: Case Report. Asp J Pediatrics Child Health. 2021 Feb 20;3(1):1-10.

Copyright © 2021 Thong JY, Li Z, Halim A, Wang X, Halim M, Zhai X. This is an open-access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Keywords: Short Stature, Optic Atrophy, Pelger-Huet Anomaly, Neuroblastoma Amplified Sequence, Mutation, Whole-Genome Sequencing, Myopia, Case Report, Acute Liver Failure, Fanconi Syndrome

Abstract

Variations in the NBAS gene is known to cause a spectrum of phenotypes ranging from isolated recurrent acute liver failure (RALF) to a multisystemic 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 mutations 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.2203-2A>G and c.5139-5T>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 diagnosis reported in our patient. Our study also supports the renaming of SOPH to SOPHIA to allow early detection and effective treatment.