Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
Küçük Resim Yok
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Objective: 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.
Açıklama
Anahtar Kelimeler
Kaynak
Journal of Clinical Research in Pediatric Endocrinology
WoS Q Değeri
Scopus Q Değeri
Cilt
12
Sayı
4
