Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report

Journal of Medical Case Reports

Case Report

Imane Cherkaoui Jaouad¹  Maryem Sahli¹  Abdelali Zrhidri²  Abdelaziz Sefiani²  Youssef El Kadiri²  Yassine Nouini³  Imad Boualaoui³ 

[1] Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco;Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco;Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Faculty of Medicine and Pharmacy, Genomic Center of Human Pathologies, Mohammed V University in Rabat, Rabat, Morocco;Department of Urology A, Ibn Sina Hospital, Mohammed V University, Rabat, Morocco;

关键词: Wolfram syndrome;    Next-generation sequencing;    WFS1;    Moroccan family;   

DOI  :  10.1186/s13256-023-04150-2

 received in 2023-02-18, accepted in 2023-08-25,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundWolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations. Symptoms of the disease arise mostly in early childhood with a high mortality rate due to severe neurological complications. Two causative genes have been identifed in this syndrome; the classical form is caused by autosomal recessive mutations of the WFS1 gene, and a smaller portion of patients has mutations in the CIDS2 gene, which are responsible for autosomal recessive Wolfram syndrome 2.Case presentationWe report the case of a 28-year-old Moroccan boy born from consanguineous parents referred to the department of medical genetics at the National Institute of Health in Rabat. The diagnosis of Wolfram syndrome was made based on insulin-dependent diabetes, optic nerve atrophy, sensorineural deafness, urological abnormalities and psychiatric illness. To establish the diagnosis at a molecular level, we performed next-generation sequencing in the index patient, which revealed compound heterozygous WFS1 mutations: c.1113G > A (p.Trp371Ter) and c.1223_1224insGGAACCACCTGGAGCCCTATGCCCATTT (p.Phe408fs). This second variant has never been described in patients with Wolfram syndrome.ConclusionThe identification of the genetic substrate in our patient confirmed the clinical diagnosis of Wolfram syndrome and allowed us to provide him an appropriate management and genetic counseling to his family.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

【 图 表 】

Fig. 7