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Eur J Med Genet. 2018 Oct 22. pii: S1769-7212(18)30354-9. doi: 10.1016/j.ejmg.2018.10.006. [Epub ahead of print]

Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux.

Author information

1
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.
2
School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
3
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
4
Institut des Sciences de l'Evolution de Montpellier, Université de Montpellier, CNRS, IRD, EPHE, Montpellier, France.
5
Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland; Department of Clinical Genetics, HUSLAB, Helsinki University Hospital, Helsinki, Finland; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address: outi.makitie@helsinki.fi.
6
School of Biological Sciences, University of the Punjab, Lahore, Pakistan. Electronic address: naz.sbs@pu.edu.pk.

Abstract

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.

KEYWORDS:

AMDM; Acromesomelic dysplasia; NPR2; Short stature; Skeletal dysplasia

PMID:
30359775
DOI:
10.1016/j.ejmg.2018.10.006

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