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


Gun Bilgic D., Gerik Celebi H. B., Aydin Gumus A., Bilgic A., YAZICI H., CEYLANER S., ...More

Journal of Clinical Neuroscience, vol.82, pp.214-218, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 82
  • Publication Date: 2020
  • Doi Number: 10.1016/j.jocn.2020.11.007
  • Journal Name: Journal of Clinical Neuroscience
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.214-218
  • Keywords: MPSIIIB, SPG54, DDHD2, NAGLU, WES, Novel, ALPHA-N-ACETYLGLUCOSAMINIDASE, SANFILIPPO TYPE-B, DIAGNOSIS, PATIENT, HETEROGENEITY, GENE
  • Lokman Hekim University Affiliated: No

Abstract

© 2020 Elsevier LtdMucopolysaccharidosis 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.