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Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.

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Summary

Mutations in the NPR2 gene cause skeletal growth disorders. Biallelic mutations lead to acromesomelic dysplasia Maroteaux type, while heterozygous mutations cause progressive short stature in families.

Keywords:
NPR2ANPR2acromesomelic dysplasia Maroteaux typeshort stature

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Area of Science:

  • Genetics
  • Endocrinology
  • Skeletal Biology

Background:

  • NPR2 encodes atrial natriuretic peptide receptor B (ANPRB), a key regulator of skeletal growth.
  • Biallelic loss-of-function mutations in NPR2 cause acromesomelic dysplasia Maroteaux type (AMDM).
  • Heterozygous NPR2 mutations are implicated in approximately 2-6% of idiopathic short stature (ISS) cases.

Purpose of the Study:

  • To investigate the physical characteristics and growth patterns in a family with novel NPR2 mutations.
  • To analyze individuals with AMDM, ISS, and normal stature within the family.
  • To understand the functional impact of identified NPR2 mutations.

Main Methods:

  • Whole exome sequencing was performed on affected children and healthy parents.
  • Detailed genotyping and phenotyping were conducted on a multigenerational family.
  • Mutant ANPRB proteins were expressed in mammalian cells to assess expression and function.

Main Results:

  • AMDM-affected sisters were compound heterozygotes for a novel p.P93S (maternal) and a known p.R989L (paternal) NPR2 mutation.
  • Both mutant ANPRB proteins showed normal expression but exerted dominant negative effects on wild-type ANPRB activity.
  • Heterozygous relatives exhibited proportionate short stature (height z-scores -2.06 ± 0.97) compared to wild-type siblings (-1.37 ± 0.59).
  • Height z-scores in heterozygous children decreased progressively with age, unlike their wild-type siblings.

Conclusions:

  • Biallelic NPR2 mutations result in severe skeletal dysplasia (AMDM).
  • Heterozygous NPR2 mutations lead to a milder phenotype of progressive short stature, with diminishing height potential over time.