A novel pathogenic variant in the 3MODIFIER LETTER PRIME end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?

Basit Öğe Kaydı
dc.authoridTuray, Sevim/0000-0001-6002-052X
dc.contributor.authorTuray, Sevim
dc.contributor.authorEroz, Recep
dc.contributor.authorBasak, A. Nazli
dc.date.accessioned2021-12-01T18:48:15Z
dc.date.available2021-12-01T18:48:15Z
dc.date.issued2021
dc.department[Belirlenecek]en_US
dc.description.abstractChildhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a recently described form of the large group of infantile hereditary lower motor neuron diseases (Teoh et al. 2017), resulting from biallelic damaging variants in the AGTPBP1 gene, first described by Shashi et al. in EMBO J 37(23):e100540, 2018. AGTPBP-related neurodegeneration is a severe neurodevelopmental disorder that progresses with global developmental delay and intellectual disability, often accompanied with peripheral nerve damage and lower motor degeneration and a fatal course in the early years of life. The encoded protein is ATP/GTP-Binding Protein1, also known as cytosolic carboxypeptidase 1 (CCP1) or nervous system nuclear protein induced by axotomy (NNA1). Here we report a consanguineous family with four offspring, two of whom are affected. The index patient is a 21-month-old male with global developmental delay and hypotonia. The proband's 17-year-old sister, diagnosed with cerebral palsy, had severe hypotonia accompanied by motor and cognitive retardation. WES analysis revealed a novel homozygous c.3293G > A variant in the AGTPBP1 gene with high pathogenicity scores. Targeted Sanger sequencing confirmed the variant in both affected children and in heterozygous form in the parents. The affected siblings present with hypotonia and motor and cognitive retardation, in line with the studies previously reported. However, in our patients, no signs of cerebellar atrophy in cranial MRI were present, so the acronym CONDCA is not applicable; lower motor neuron findings were also absent. The matching and distinguishing aspects of our patients will add to the present literature and expand our understanding of this rare genetic neurodegenerative disease of early childhood.en_US
dc.description.sponsorshipSuna and Inan Kirac Foundation; Koc University School of MedicineKoc Universityen_US
dc.description.sponsorshipANB's research is funded by Suna and Inan Kirac Foundation and Koc University School of Medicine.en_US
dc.identifier.doi10.1007/s10048-021-00643-8
dc.identifier.endpage132en_US
dc.identifier.issn1364-6745
dc.identifier.issn1364-6753
dc.identifier.issue2en_US
dc.identifier.pmid33909173en_US
dc.identifier.scopus2-s2.0-85105413051en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage127en_US
dc.identifier.urihttps://doi.org/10.1007/s10048-021-00643-8
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10492
dc.identifier.volume22en_US
dc.identifier.wosWOS:000645164200001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofNeurogeneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAGTPBP1-related neurodegenerationen_US
dc.subjectAGTPBP1 geneen_US
dc.subjectHypotoniaen_US
dc.subjectMotor and cognitive retardationen_US
dc.titleA novel pathogenic variant in the 3MODIFIER LETTER PRIME end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?en_US
dc.typeArticleen_US

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