Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families

Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type... Summary Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21‐p12. The gene encodes the natriuretic peptide receptor B (NPR‐B) that acts as an endogenous receptor for C‐type natriuretic peptide (CNP). Both CNP and NPR‐B are considered as important regulators of longitudinal growth. The study presented here investigated three consanguineous families (A, B, C) segregating AMDM in an autosomal recessive manner. Linkage in the families was established to the NPR2 gene on chromosome 9p12‐21. Sequence analysis of the gene revealed two novel missense variants (p.Arg601Ser; p.Arg749Trp) in two families and a previously reported splice site variant (c.2986+2T>G) in the third family. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families

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Publisher
Wiley
Copyright
Copyright © 2015 John Wiley & Sons Ltd/University College London
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/ahg.12116
pmid
25959430
Publisher site
See Article on Publisher Site

Abstract

Summary Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21‐p12. The gene encodes the natriuretic peptide receptor B (NPR‐B) that acts as an endogenous receptor for C‐type natriuretic peptide (CNP). Both CNP and NPR‐B are considered as important regulators of longitudinal growth. The study presented here investigated three consanguineous families (A, B, C) segregating AMDM in an autosomal recessive manner. Linkage in the families was established to the NPR2 gene on chromosome 9p12‐21. Sequence analysis of the gene revealed two novel missense variants (p.Arg601Ser; p.Arg749Trp) in two families and a previously reported splice site variant (c.2986+2T>G) in the third family.

Journal

Annals of Human GeneticsWiley

Published: Jul 1, 2015

References

  • Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers
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  • Acromesomelic dysplasia
    Langer, Langer; Garrett, Garrett
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    Pejchalova, Pejchalova; Krejci, Krejci; Wilcox, Wilcox
  • Nitric oxide, C‐type natriuretic peptide and cGMP as regulators of endochondral ossification
    Teixeira, Teixeira; Agoston, Agoston; Beier, Beier
  • Natriuretic peptides in cardiovascular diseases: current use and perspectives
    Volpe, Volpe; Rubattu, Rubattu; Burnett, Burnett

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