Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity

Basit Öğe Kaydı
dc.authoridTERALI, KEREM/0000-0002-9964-6383
dc.authoridGezdirici, Alper/0000-0002-2432-9279
dc.authoriddogan, mustafa/0000-0003-0464-6565
dc.authorwosidTERALI, KEREM/Q-3270-2016
dc.authorwosidGezdirici, Alper/W-8459-2018
dc.contributor.authorDogan, Mustafa
dc.contributor.authorEroz, Recep
dc.contributor.authorTerali, Kerem
dc.contributor.authorGezdirici, Alper
dc.contributor.authorBolu, Semih
dc.date.accessioned2021-12-01T18:50:34Z
dc.date.available2021-12-01T18:50:34Z
dc.date.issued2021
dc.department[Belirlenecek]en_US
dc.description.abstractMucolipidosis III gamma (ML III gamma) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue structures. It is caused by pathogenic variants in the GNPTG gene that provides instructions for producing the gamma subunit of GlcNAc-1-phosphotransferase. In this study we aim to characterize clinical findings and biological insights on two novel GNPTG variants causing ML III gamma phenotypes with varying severity. We report on two siblings with ML III gamma bearing the previously undescribed c.477C > G (p.Y159*) nonsense variant in a homozygous state as well as a patient with ML III gamma bearing the novel c.110 + 19_111-17del variant in a homozygous state. These variants were revealed by whole-exome sequencing and Sanger sequencing, respectively. Their parents, who are heterozygotes for the same mutation, are healthy. The clinical and radiographic presentation of ML III gamma in our patients who had c.477C > G (p.Y159*) variant is consistent with a relatively severe form of the disease, which is further supported by a working three-dimensional model of the GlcNAc-1-phosphotransferase gamma subunit. On the other hand, it is seen that our patient who carries the c.110 + 19_111-17del variant has a milder phenotype. Our findings help broaden the spectrum of GNPTG variants causing ML III gamma and offer structural and mechanistic insights into loss of GlcNAc-1-phosphotransferase gamma subunit function.en_US
dc.identifier.doi10.1007/s11033-021-06158-7
dc.identifier.endpage1474en_US
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.issue2en_US
dc.identifier.pmid33507475en_US
dc.identifier.scopus2-s2.0-85099867170en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1465en_US
dc.identifier.urihttps://doi.org/10.1007/s11033-021-06158-7
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10896
dc.identifier.volume48en_US
dc.identifier.wosWOS:000612593400005en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofMolecular Biology Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLysosomal storage disorderen_US
dc.subjectMucolipidosis III gammaen_US
dc.subjectGlcNAc-1-phosphotransferaseen_US
dc.subjectGNPTGen_US
dc.titleClinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severityen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
10896.pdf
Boyut:
4.36 MB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu