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

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dc.contributor.authorGun Bilgic D.
dc.contributor.authorGerik Celebi H.B.
dc.contributor.authorAydin Gumus A.
dc.contributor.authorBilgic A.
dc.contributor.authorYazici H.
dc.contributor.authorCeylaner S.
dc.contributor.authorYilmaz C.
dc.contributor.authorPolat M.
dc.contributor.authorAkbal Sahin M.
dc.contributor.authorDereli F.
dc.contributor.authorCam F.S.
dc.date.accessioned2024-07-22T08:06:55Z
dc.date.available2024-07-22T08:06:55Z
dc.date.issued2020
dc.description.abstractMucopolysaccharidosis 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 Ltd
dc.identifier.DOI-ID10.1016/j.jocn.2020.11.007
dc.identifier.issn09675868
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13759
dc.language.isoEnglish
dc.publisherChurchill Livingstone
dc.subjectAcetylglucosaminidase
dc.subjectAgenesis of Corpus Callosum
dc.subjectFemale
dc.subjectHomozygote
dc.subjectHumans
dc.subjectMucopolysaccharidosis III
dc.subjectMutation
dc.subjectParaplegia
dc.subjectPhospholipases
dc.subjectWhole Exome Sequencing
dc.subjectamino acid
dc.subjectcarnitine palmitoyltransferase I
dc.subjectDNA
dc.subjectacetylglucosaminidase
dc.subjectalpha-N-acetyl-D-glucosaminidase
dc.subjectDDHD2 protein, human
dc.subjectphospholipase
dc.subjectArticle
dc.subjectcase report
dc.subjectchild
dc.subjectclinical article
dc.subjectclinical feature
dc.subjectconsanguineous marriage
dc.subjectcorpus callosum agenesis
dc.subjectDDHD2 gene
dc.subjectdevelopmental delay
dc.subjectDNA sequencing
dc.subjectfemale
dc.subjectgene
dc.subjectgene mutation
dc.subjectgenetic variation
dc.subjectGM1 gangliosidosis
dc.subjectGM2 gangliosidosis
dc.subjecthereditary motor sensory neuropathy
dc.subjecthomozygosity
dc.subjecthuman
dc.subjectlimb weakness
dc.subjectmolecular diagnosis
dc.subjectNAGLU gene
dc.subjectnuclear magnetic resonance imaging
dc.subjectnuclear magnetic resonance spectroscopy
dc.subjectpersistent vegetative state
dc.subjectphysical examination
dc.subjectpriority journal
dc.subjectSanfilippo syndrome
dc.subjectsibling
dc.subjectspastic paraplegia
dc.subjectspasticity
dc.subjectTurk (people)
dc.subjectwhole exome sequencing
dc.subjectgenetics
dc.subjecthomozygote
dc.subjectmutation
dc.subjectparaplegia
dc.subjectSanfilippo syndrome
dc.titleCoinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family
dc.typeArticle

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