Shan Yan-Chun, Yang Zhao-Chuan, Ma Liang, Ran Ni, Feng Xue-Ying, Liu Xiao-Mei, Fu Peng, Yi Ming-Ji
Department of Child Health Care, Pediatric Center, Affiliated Hospital of Qingdao University, Qingdao, 266003, People's Republic of China.
Int J Gen Med. 2021 May 17;14:1873-1880. doi: 10.2147/IJGM.S306018. eCollection 2021.
This study aims to explore the clinical features and molecular diagnosis of FBN1-related acromelic dysplasia in Chinese patients.
The clinical and genetic features of three FBN1-related acromicric dysplasia (AD)/geleophysic dysplasia (GD) Chinese patients from two families were reviewed, and comprehensive medical evaluations were performed. Targeted next-generation sequencing was used to detect genetic mutations associated with short statures, including FBN1. Sanger sequencing was used to determine the de novo mutation origin.
Patient 1 presented with short stature, short and stubby hands and feet, mild facial dysmorphism, hepatomegaly, delayed bone age and beak-like femoral heads. Patient 2 and this patient's father merely presented with short stature, wide and short hands, and beak-like femoral heads. One novel mutation, c.5272G>T(p.D1758Y), and one known mutation, c.5183C>T(p.A1728V), were identified in these patients.
The clinical features varied among these patients. The variant c.5272G>T(p.D1758Y) is a novel mutation.
本研究旨在探讨中国患者中与FBN1相关的肢端发育异常的临床特征和分子诊断。
回顾了来自两个家庭的3例与FBN1相关的肢端发育异常（AD）/脂肪代谢障碍性发育异常（GD）中国患者的临床和遗传特征，并进行了全面的医学评估。采用靶向二代测序检测与身材矮小相关的基因突变，包括FBN1。采用桑格测序法确定新发突变的来源。
患者1表现为身材矮小、手脚短粗、轻度面部畸形、肝肿大、骨龄延迟和喙状股骨头。患者2及其父亲仅表现为身材矮小、手宽短和喙状股骨头。在这些患者中鉴定出一个新突变，即c.5272G>T（p.D1758Y），以及一个已知突变，即c.5183C>T（p.A1728V）。
这些患者的临床特征各不相同。c.5272G>T（p.D1758Y）变异是一个新突变。
