Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

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dc.contributor.authorDemir, Korcan
dc.contributor.authorGürsoy, Semra
dc.contributor.authorÖzkan, Behzat
dc.contributor.authorÇoğulu, Özgür
dc.contributor.authorNalbantoğlu, Özlem
dc.contributor.authorHazan, Filiz
dc.contributor.authorKorkmaz, Hüseyin Anıl
dc.date.accessioned2023-01-12T20:32:07Z
dc.date.available2023-01-12T20:32:07Z
dc.date.issued2020
dc.departmentN/A/Departmenten_US
dc.description.abstractObjective: SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degreesof growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS).The aim of this study was to describe the clinical features and molecular results of SHOX deficiency in a group of Turkish patients whohad skeletal findings with and without short stature.Methods: Forty-six patients with ISS, disproportionate short stature or skeletal findings without short stature from 35 different familieswere included. SHOX gene analysis was performed using Sanger sequencing and multiplex ligation-dependent probe amplificationanalysis.Results: Three different point mutations (two nonsense, one frameshift) and one whole SHOX gene deletion were detected in 15 patientsfrom four different families. While 4/15 patients had LMD, the remaining patients had clinical features compatible with LWD. Madelung’sdeformity, cubitus valgus, muscular hypertrophy and short forearm were the most common phenotypic features, as well as short stature.Additionally, hearing loss was detected in two patients with LMD.Conclusion: This study has presented the clinical spectrum and molecular findings of 15 patients with SHOX gene mutations or deletions.SHOX deficiency should be especially considered in patients who have disproportionate short stature or forearm anomalies with orwithout short stature. Although most of the patients had partial or whole gene deletions, SHOX gene sequencing should be performed insuspected cases. Furthermore, conductive hearing loss may rarely accompany these clinical manifestations.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2020.2019.0001
dc.identifier.endpage365en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue4en_US
dc.identifier.startpage358en_US
dc.identifier.trdizinid412546en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2020.2019.0001
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/412546
dc.identifier.urihttps://hdl.handle.net/11454/81030
dc.identifier.volume12en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleDetection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Statureen_US
dc.typeArticleen_US

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