Publication:
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome

dc.contributor.coauthorKarakılıç-Özturan, Esin
dc.contributor.coauthorÖztürk, Ayşe Pınar
dc.contributor.coauthorAl Kardelen, Aslı Derya
dc.contributor.coauthorYavaş Abalı, Zehra
dc.contributor.coauthorWollnik, Bernd
dc.contributor.coauthorPoyrazoğlu, Şükran
dc.contributor.coauthorBaş, Firdevs
dc.contributor.coauthorUyguner, Zehra Oya
dc.contributor.coauthorDarendeliler, Feyza
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:43:05Z
dc.date.issued2022
dc.description.abstractOsteoporosis-pseudoglioma syndrome (OPPG; MIM #259770) is a rare autosomal recessively inherited disease, characterized by early-onset osteoporosis and congenital blindness, caused by loss-of-function mutations in the LRP5 gene. Beneficial effects of bisphosphonate treatment in patients with OPPG are well known, while follow-up data on growth and pubertal parameters are limited. This article provides clinical follow-up data and long-term bisphosphonate treatment results in four OPPG patients from three unrelated families, ranging between 2.5 and 7 years of age at presentation. Clinical diagnosis was molecularly confirmed in all patients, with four different germline biallelic LRP5 mutations including a novel nonsense variant c.3517C>T (p.(Gln1173*)) in two siblings with marked phenotypic variability. Anthropometric and pubertal data and bone mineral density (BMD) measurements were evaluated retrospectively. Early puberty was observed in two patients. The bisphosphonate treatment duration of patients varied around 4-7 years and improvement in BMD z-scores with bisphosphonate treatment was demonstrated in all patients (z-score changes were +5.6, +4.0, +1.0, and +1.3). Although further research is needed to identify the possible association between early puberty and OPPG, all OPPG patients should be followed up with detailed endocrinological evaluation regarding pubertal status.
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue7
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume188
dc.identifier.doi10.1002/ajmg.a.62742
dc.identifier.eissn1552-4833
dc.identifier.issn1552-4825
dc.identifier.quartileQ3
dc.identifier.scopus2-s2.0-85127612770
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.62742
dc.identifier.urihttps://hdl.handle.net/20.500.14288/13435
dc.identifier.wos779282100001
dc.keywordsBisphosphonate
dc.keywordsEarly puberty
dc.keywordsLRP5
dc.keywordsOsteoporosis-pseudoglioma syndrome
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.subjectGenetics
dc.subjectHeredity
dc.titleEvaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorAvcı, Şahin
local.contributor.kuauthorKayserili, Hülya
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit2School of Medicine
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