Gun Bilgic D.Gerik Celebi H.B.Aydin Gumus A.Bilgic A.Yazici H.Ceylaner S.Yilmaz C.Polat M.Akbal Sahin M.Dereli F.Cam F.S.2024-07-222024-07-22202009675868http://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13759Mucopolysaccharidosis 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. © 2020 Elsevier LtdEnglishAcetylglucosaminidaseAgenesis of Corpus CallosumFemaleHomozygoteHumansMucopolysaccharidosis IIIMutationParaplegiaPhospholipasesWhole Exome Sequencingamino acidcarnitine palmitoyltransferase IDNAacetylglucosaminidasealpha-N-acetyl-D-glucosaminidaseDDHD2 protein, humanphospholipaseArticlecase reportchildclinical articleclinical featureconsanguineous marriagecorpus callosum agenesisDDHD2 genedevelopmental delayDNA sequencingfemalegenegene mutationgenetic variationGM1 gangliosidosisGM2 gangliosidosishereditary motor sensory neuropathyhomozygosityhumanlimb weaknessmolecular diagnosisNAGLU genenuclear magnetic resonance imagingnuclear magnetic resonance spectroscopypersistent vegetative statephysical examinationpriority journalSanfilippo syndromesiblingspastic paraplegiaspasticityTurk (people)whole exome sequencinggeneticshomozygotemutationparaplegiaSanfilippo syndromeArticle10.1016/j.jocn.2020.11.007