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First HPSE2 missense mutation in urofacial syndrome.

S Mahmood1, C Beetz, M M Tahir

  • 1Department of Human Genetics & Molecular Biology, University of Health Sciences, Khayaban-e-Jamia Punjab, Lahore, Pakistan.

Clinical Genetics
|February 22, 2011
PubMed
Summary

Urofacial syndrome (UFS) is a rare condition causing urinary issues and a unique facial expression. This study identifies a new genetic mutation in the HPSE2 gene, highlighting UFS may be underdiagnosed.

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Area of Science:

  • Genetics
  • Rare Diseases
  • Urology

Background:

  • Urofacial syndrome (UFS) is characterized by urological dysfunction and a distinctive inverted facial appearance during smiling.
  • Previous studies have linked UFS to chromosome 10q, with recent work identifying homozygous loss-of-function mutations in the HPSE2 gene.
  • Seventeen familial cases across diverse ethnicities have been documented.

Purpose of the Study:

  • To investigate a consanguineous family from Pakistan affected by Urofacial syndrome.
  • To identify the genetic cause of UFS in this family and establish linkage to the 10q critical region.
  • To characterize novel HPSE2 variants and their role in UFS pathogenesis.

Main Methods:

  • Genetic linkage analysis to the chromosome 10q critical region.
  • Whole-exome sequencing to identify mutations in the HPSE2 gene.
  • In silico analysis and control screening to validate variant pathogenicity.

Main Results:

  • Linkage to the chromosome 10q critical region was established in the affected family.
  • Two non-synonymous HPSE2 variants were identified: c.631T>C (p.Y211H) and c.1628A>T (p.N543I).
  • The variant c.631T>C was classified as a benign single nucleotide polymorphism (SNP), while c.1628A>T was identified as the disease-causing mutation, representing the first missense mutation in HPSE2 associated with UFS.

Conclusions:

  • The study confirms the genetic heterogeneity of Urofacial syndrome and the involvement of the HPSE2 gene.
  • The findings suggest that Urofacial syndrome may be underdiagnosed due to diagnostic challenges.
  • Identification of the first HPSE2 missense mutation provides a foundation for future functional studies into the mechanisms underlying UFS symptoms.