Publication:
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey

dc.contributor.coauthorKalayci, Tugba
dc.contributor.coauthorEsmer, Aytul Corbacioglu
dc.contributor.coauthorSivrikoz, Tugba Sarac
dc.contributor.coauthorKaraman, Birsen
dc.contributor.coauthorKalelioglu, Ibrahim
dc.contributor.coauthorHas, Recep
dc.contributor.coauthorUyguner, Zehra Oya
dc.contributor.coauthorYuksel, Atil
dc.contributor.coauthorBasaran, Seher
dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T22:48:44Z
dc.description.abstractWe report on 314 fetal cases from 297 unrelated families with skeletal dysplasia evaluated in the postmortem period from 2000 to 2017 at a single clinical genetics center in Istanbul, Turkey. The definite diagnostic yield was 40% during the prenatal period, while it reached 74.5% when combined with postmortem clinical and radiological evaluation. Molecular analyses were performed in 25.5% (n: 76) of families, and 21 novel variants were identified. Classification according to International Skeletal Dysplasia Society-2019 revision revealed limb hypoplasia-reduction defects group (39) as the leading one, 24.5%, then followed by FGFR3 chondrodysplasias, osteogenesis imperfecta, and decreased mineralization and polydactyly-syndactyly-triphalangism groups 13.6, 11.1, and 8.9%, respectively. The inheritance pattern was autosomal recessive in 54% and autosomal dominant in 42.6% of index cases. The overall consanguinity rate of the cohort was 33%. The high prevalence of ultrarare diseases along with two or more unrelated autosomal recessive entities running in the same family was noteworthy. This study highlights the pivotal role of postmortem evaluation by an experienced clinical geneticist to achieve a high diagnostic yield in fetal skeletal dysplasia cohorts. The cohort is not only a representation of the spectrum of skeletal dysplasias in a population with a high consanguinity rate but also provides an ideal research group to work on to identify the unknowns of early fetal life.
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuTÜBİTAK
dc.description.sponsorshipScientific and Technological Research Council of Turkey (TUBITAK) [112S398]
dc.description.sponsorshipIstanbul University [TTU-2017-24121] Research Fund of Istanbul University, Grant/Award Number: TTU-2017-24121
dc.description.sponsorshipScientific and Technological Research Council of Turkey (TUBITAK), Grant/Award Number:112S398.
dc.identifier.doi10.1002/ajmg.a.63050
dc.identifier.eissn1552-4833
dc.identifier.issn1552-4825
dc.identifier.scopus2-s2.0-85143343285
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.63050
dc.identifier.urihttps://hdl.handle.net/20.500.14288/6377
dc.identifier.wos888911500001
dc.keywordsFetal skeletal dysplasias
dc.keywordsLimb hypoplasia-reduction defects
dc.keywordsNosology of skeletal dysplasias
dc.keywordsPostmortem clinical examination
dc.keywordsPrenatal diagnosis
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.subjectGenetics
dc.subjectHeredity
dc.titleFetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey
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.orgunit1KUH (KOÇ UNIVERSITY HOSPITAL)
local.publication.orgunit2KUH (Koç University Hospital)
local.publication.orgunit2School of Medicine
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