Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.

Autor: Gun Bilgic D; Department of Medical Genetics, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey. Electronic address: dilek.bilgic@cbu.edu.tr., Gerik Celebi HB; Department of Medical Genetics, Balıkesir City Hospital, Balıkesir, Turkey., Aydin Gumus A; Department of Medical Genetics, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey., Bilgic A; Department of Orthopaedics and Traumatology, Manisa City Hospital, Manisa, Turkey., Yazici H; Department of Pediatric Metabolic Disease, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey., Ceylaner S; INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Turkey., Yilmaz C; Department of Pediatric Neurology, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey., Polat M; Department of Pediatric Neurology, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey., Akbal Sahin M; INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Turkey., Dereli F; INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Turkey., Cam FS; Department of Medical Genetics, Manisa Celal Bayar University Medical Faculty, Manisa, Turkey.
Jazyk: angličtina
Zdroj: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia [J Clin Neurosci] 2020 Dec; Vol. 82 (Pt B), pp. 214-218. Date of Electronic Publication: 2020 Nov 24.
DOI: 10.1016/j.jocn.2020.11.007
Abstrakt: Mucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous mutations in the DDHD2 gene. Clinical features are progressive spasticity and weakness in the lower limbs and corpus callosum agenesis. We report on two siblings in a consanguineous family, presenting both the clinical and molecular diagnoses of MPSIIIB and SPG54 with novel mutations by using whole exome sequencing (WES). This interesting finding shows that we should be aware of the importance of using WES for diagnosing rare diseases in consanguineous families.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2020 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: