Jia Yean Thong1#, Zifeng Li2#, Alice Halim1#, Xiaochuan Wang3, Michael Halim4*, Xiaowen Zhai2* 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.
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.