Poikiloderma with Neutropenia: Genotype-Ethnic Origin Correlation, Expanding Phenotype and Literature Review

Koparir A., Gezdirici A., Koparir E., Ulucan H., YILMAZ M. Y., Erdemir A., ...More

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.10, pp.2535-2540, 2014 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Review
  • Volume: 164 Issue: 10
  • Publication Date: 2014
  • Doi Number: 10.1002/ajmg.a.36683
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2535-2540
  • Keywords: poikiloderma with neutropenia (PN), ethnic origin, growth hormone (GH) therapy, high-pitched voice, vocal cord nodules, CLERICUZIO-TYPE POIKILODERMA, DYSKERATOSIS-CONGENITA, C16ORF57, MUTATIONS, NAVAJO, FAMILY
  • Kocaeli University Affiliated: No


Poikiloderma with neutropenia (PN), is a rare genodermatosis associated with patognomic features of poikiloderma and permanent neutropenia. Three common recurrent mutations of related gene, USB1, were considered to be associated with three different ethnic origins. The most common recurrent mutation, c.531delA, has been detected in seven Caucasian patients in the literature. In this paper, we present review of all patients from the literature and report two additional patients of Turkish ancestry with the diagnosis of PN. The diagnosis of these two PN patients were made clinically and confirmed by molecular analysis which detected the most common recurrent mutation, c.531delA. Genotype-ethnic origin correlation hypothesis, therefore, has been strengthened with this result. Short stature in PN, is a common finding, which until now has never been treated with growth hormone (GH). One of our patients is the first patient with attempted treatment of short stature via GH administration. Finally, both of our patients had high-pitched voice and vocal cord nodules which might be considered as additional clinical findings not associated with PN before. (C) 2014 Wiley Periodicals, Inc.