HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction

Burcu Bulum, Z. Birsin Özçakar, Duygu Duman, Filiz Başak Cengiz, Asll Kavaz, Berk Burgu, Esra Baskln, Nilgün Çakar, Tarkan Soygür, Mesiha Ekim, Mustafa Tekin, Fatoş Yalçlnkaya

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Background: Urofacial syndrome (UFS) is characterised by congenital bladder dysfunction accompanied by a characteristic abnormal grimace upon smiling and crying. In recent years, biallelic mutations of HPSE2 and LRIG2 have been reported in UFS patients. Non-neurogenic neurogenic bladder (NNNB) has a bladder identical to UFS without typical facial features. The aim of this study was to analyse HPSE2 mutations in patients with UFS and NNNB or severe lower urinary tract dysfunction (LUTD) without abnormal facial expression. Methods: Patients with UFS, NNNB and severe LUTD were enrolled in the study. We examined a total of 35 patients from 33 families. There were seven UFS patients from five different families, 21 patients with NNNB and seven with LUTD. HPSE2 gene mutation analysis was performed using the polymerase chain reaction protocol followed by Sanger sequencing in these patients. Results: A twin pair with UFS was found to be homozygous for c.457C>T (p.Arg153∗) mutation. No other pathogenetic variant was detected. Conclusion:HPSE2 mutations were found in one UFS family but not detected in patients with NNNB and severe LUTD. Considering the increasingly recognised cases of NNNB that were diagnosed in early childhood period, genetic factors appear to be responsible. Thus, further genetic studies are needed to discover novel associated gene variants in these bladder anomalies.

Original languageEnglish (US)
Pages (from-to)54-58
Number of pages5
Issue number1
StatePublished - 2015


  • Children
  • HPSE2 gene mutations
  • Lower urinary tract dysfunction
  • Non-neurogenic neurogenic bladder
  • Urofacial (Ochoa) syndrome

ASJC Scopus subject areas

  • Physiology
  • Nephrology
  • Physiology (medical)
  • Urology


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