2024
Exploring molecular and cellular mechanisms and phenotypic characteristics of NAGLU Arg234Gly and Asp312Asn variants
Kaymakcalan Celebiler H, Barak T, Rai D, Kaya I, Erbilgin S, Cikili Uytun M, Oztop D, Gumus H, Per H, Ceylaner S, Bozkurt I, Kontaridis M, Bilguvar K, Akhun N, Kilincaslan A, Caglayan A, Erson-Omay E, Gunel M, Ercan-Sencicek A. Exploring molecular and cellular mechanisms and phenotypic characteristics of NAGLU Arg234Gly and Asp312Asn variants. Molecular Syndromology 2024, 1-15. DOI: 10.1159/000542367.Peer-Reviewed Original ResearchWhole-exome sequencingStandard Sanger sequencingMucopolysaccharidosis type IIIBExome sequencingProgressive neurodegenerative disorderConsanguineous familySanger sequencingNAGLU genePhenotypic characteristicsMagnetic resonance imagingEnzymatic assayNeurodegenerative disordersAffected individualsLoss of activityNeurodegenerative symptomsAutosomal recessive lysosomal disorderCellular mechanismsVariantsLysosomal disorderEnzymeNormal MRI findingsSequenceMPS IIIBMRI findingsType IIIB
2017
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia
Kaymakcalan H, Yarman Y, Goc N, Toy F, Meral C, Ercan‐Sencicek A, Gunel M. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. American Journal Of Medical Genetics Part A 2017, 176: 421-425. PMID: 29226631, DOI: 10.1002/ajmg.a.38558.Peer-Reviewed Case Reports and Technical NotesConceptsNovel compound heterozygous missense variantsSpastic paraplegiaNovel compound heterozygous variantsCompound heterozygous missense variantsMissense variantsNovel compound heterozygous mutationsCompound heterozygous variantsHeterozygous missense variantsCompound heterozygous mutationsFamily membersTurkish cohortIndex patientsIntellectual developmental disabilitiesClinical phenotypeHeterozygous variantsDevelopmental delayHeterozygous mutationsAffected sisterMale siblingsUnaffected parentsFemale siblingsIntellectual disabilityDevelopmental disabilitiesSanger sequencingParaplegia