International Journal of General Medicine (May 2021)
A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations
Abstract
Yan-Chun Shan, Zhao-Chuan Yang, Liang Ma, Ni Ran, Xue-Ying Feng, Xiao-Mei Liu, Peng Fu, Ming-Ji Yi Department of Child Health Care, Pediatric Center, Affiliated Hospital of Qingdao University, Qingdao, 266003, People’s Republic of ChinaCorrespondence: Ming-Ji YiDepartment of Child Health Care, Pediatric Center, Affiliated Hospital of Qingdao University, No. 16 of Jiangsu Road, Shinan District, Qingdao, 266003, People’s Republic of ChinaTel +86 532 82911223Email [email protected]: This study aims to explore the clinical features and molecular diagnosis of FBN1-related acromelic dysplasia in Chinese patients.Methods: 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.Results: 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.Conclusion: The clinical features varied among these patients. The variant c.5272G>T(p.D1758Y) is a novel mutation.Keywords: FBN1, acromelic dysplasia, acromicric dysplasia, geleophysic dysplasia, short stature
