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Mutations in HPSE2 cause urofacial syndrome.

Sarah B Daly1, Jill E Urquhart, Emma Hilton

  • 1Genetic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), School of Biomedicine, University of Manchester, Manchester M13 9WL, UK.

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Genetic mutations in the HPSE2 gene cause Urofacial syndrome (UFS), a rare condition affecting facial expression and urinary voiding. This discovery sheds light on the genetic basis of voiding dysfunction and renal malformations.

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Area of Science:

  • Genetics
  • Pediatric Urology
  • Developmental Biology

Background:

  • Urinary voiding dysfunction is common in childhood.
  • Urofacial syndrome (UFS) is a rare genetic disorder causing facial grimacing and incomplete bladder emptying.
  • UFS can lead to kidney damage due to urinary reflux.

Purpose of the Study:

  • To identify the genetic cause of Urofacial syndrome.
  • To investigate the role of the HPSE2 gene in UFS.
  • To understand the implications for lower urinary tract malformations.

Main Methods:

  • Whole-genome SNP mapping in an affected individual.
  • Identification of a deletion in the HPSE2 gene.
  • Mutation analysis in multiple UFS families.

Main Results:

  • A 10 kb deletion in the HPSE2 gene was identified as the cause of UFS in one family.
  • Homozygous mutations in HPSE2 were confirmed in five additional unrelated families.
  • HPSE2 is expressed in the central nervous system and bladder smooth muscle.

Conclusions:

  • Mutations in HPSE2 are a primary cause of Urofacial syndrome.
  • HPSE2 plays a role in facial expression and urinary voiding control.
  • Genetic heterogeneity exists for UFS, with other genes potentially involved.