Ain Noor Ul, Iqbal Muddassar, Valta Helena, Emerling Christopher A, Ahmed Sufian, Makitie Outi, Naz Sadaf
School of Biological Sciences, University of the Punjab, Lahore, Pakistan; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
Eur J Med Genet. 2019 Sep;62(9):103554. doi: 10.1016/j.ejmg.2018.10.006. Epub 2018 Oct 22.
Acromesomelic dysplasia are a heterogeneous group of disorders with variable spectrum and severity of skeletal anomalies in the affected individuals. Acromesomelic dysplasia type Maroteaux (AMDM) is characterized by extreme shortening of the forelimbs and disproportionate short stature. Several homozygous inactivating mutations in NPR2 have been identified in different AMDM patients. We report five novel variants in affected individuals in four different families. These include two nonsense and three missense variants. This study broadens the genotypic spectrum of NPR2 mutations in individuals with AMDM and also describes the intra- and inter-familial phenotypic variability due to NPR2 variants.
肢端中胚层发育不良是一组异质性疾病，受影响个体的骨骼异常具有不同的范围和严重程度。马罗托型肢端中胚层发育不良（AMDM）的特征是前肢极度缩短和身材比例失调。在不同的AMDM患者中已鉴定出NPR2的几种纯合失活突变。我们报告了四个不同家族中受影响个体的五个新变体。其中包括两个无义变体和三个错义变体。本研究拓宽了AMDM患者中NPR2突变的基因型谱，还描述了由于NPR2变体导致的家族内和家族间表型变异性。
