University of Health Sciences Turkey, Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Clinic of Pediatric Genetics, İzmir, Turkey
University of Health Sciences Turkey, Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Clinic of Medical Genetics, İzmir, Turkey
J Clin Res Pediatr Endocrinol. 2020 Nov 25;12(4):358-365. doi: 10.4274/jcrpe.galenos.2020.2019.0001. Epub 2020 Apr 16.
gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of 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 deficiency in a group of Turkish patients who had skeletal findings with and without short stature.
Forty-six patients with ISS, disproportionate short stature or skeletal findings without short stature from 35 different families were included. gene analysis was performed using Sanger sequencing and multiplex ligation-dependent probe amplification analysis.
Three different point mutations (two nonsense, one frameshift) and one whole gene deletion were detected in 15 patients from four different families. While 4/15 patients had LMD, the remaining patients had clinical features compatible with LWD. Madelung’s deformity, 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.
This study has presented the clinical spectrum and molecular findings of 15 patients with gene mutations or deletions. deficiency should be especially considered in patients who have disproportionate short stature or forearm anomalies with or without short stature. Although most of the patients had partial or whole gene deletions, gene sequencing should be performed in suspected cases. Furthermore, conductive hearing loss may rarely accompany these clinical manifestations.
基因突变是身材矮小的一个遗传原因。临床表型包括不同程度的生长障碍，如 Langer 中胚层发育不良（LMD）、Léri-Weill 软骨发育不全（LWD）或特发性身材矮小（ISS）。本研究旨在描述一组土耳其患者的临床特征和分子结果，这些患者骨骼表现有或无身材矮小。
纳入了来自 35 个不同家庭的 46 名 ISS、不成比例的身材矮小或骨骼表现无身材矮小的患者。使用 Sanger 测序和多重连接依赖性探针扩增分析进行 基因分析。
在四个不同家庭的 15 名患者中检测到了三种不同的点突变（两种无义突变，一种移码突变）和一种全 基因缺失。4/15 名患者患有 LMD，其余患者具有与 LWD 相符的临床特征。Madelung 畸形、肘外翻、肌肉肥大和短前臂是最常见的表型特征，以及身材矮小。此外，两名患有 LMD 的患者还出现了听力损失。
本研究展示了 15 名 基因突变或缺失患者的临床谱和分子发现。在有不成比例的身材矮小或前臂异常的患者中，尤其是应考虑存在 缺陷。尽管大多数患者存在部分或全基因缺失，但应在疑似病例中进行 基因测序。此外，听力损失可能很少伴随这些临床表现。
