WES Reveals Novel Heterozygous NBAS Gene Mutations Associated with Fanconi Syndrome in a Patient with SOPH Syndrome: Case Report
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Published:2021-02-20
Issue:1
Volume:3
Page:1-10
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ISSN:
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Container-title:Asploro Journal of Pediatrics and Child Health
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language:en
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Short-container-title:Asp J Pediatrics Child Health
Author:
JY Thong1, Z Li2, A Halim1, X Wang3, M Halim4, X Zhai2
Affiliation:
1. Zhongshan Hospital, Shanghai Medical College of Fudan University, Shanghai, China 2. Department of Hematology and Oncology, Children’s Hospital of Fudan University, China 3. Department of Immunology, Children’s Hospital of Fudan University, China 4. University of Salford, MSc Biomedical Science, Greater Manchester, United Kingdom
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.
Publisher
Asploro Open Access Publications
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