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Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.

AbstractBACKGROUND:
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare primordial dwarfism that is similar to Seckel syndrome. Seckel syndrome is known to be associated with various hematological abnormalities; however, hematological findings in MOPD II patients have not been previously reported. The present study aimed to describe the hematological findings in a series of eight patients with MOPD II from a single center.
MATERIALS AND METHODS:
The study included eight patients with MOPD II that were analyzed via molecular testing, and physical and laboratory examinations.
RESULTS:
Molecular testing showed that seven of the eight patients had pericentrin (PCNT) gene mutations. Hematological evaluation showed that 7 (87.5%) patients had thrombocytosis, 6 (75%) had leukocytosis, 5 (62.5%) had both leukocytosis and thrombocytosis, and 2 (25%) had anemia.
CONCLUSIONS:
We report leukocytosis and thrombocytosis as a common hematologic abnormality in patients with MOPD II. The present findings may improve our understanding of the potential function of the PCNT gene in hematopoietic cell proliferation and differentiation.
AuthorsSule Unal, Yasemin Alanay, Mualla Cetin, Koray Boduroglu, Eda Utine, Valerie Cormier-Daire, Celine Huber, Yasemin Ozsurekci, Esra Kilic, Ozlem Pelin Simsek Kiper, Fatma Gumruk
JournalPediatric blood & cancer (Pediatr Blood Cancer) Vol. 61 Issue 2 Pg. 302-5 (Feb 2014) ISSN: 1545-5017 [Electronic] United States
PMID24106199 (Publication Type: Case Reports, Journal Article)
Copyright© 2013 Wiley Periodicals, Inc.
Chemical References
  • Antigens
  • pericentrin
Topics
  • Anemia, Iron-Deficiency (diagnosis, etiology)
  • Antigens (genetics)
  • Child
  • Child, Preschool
  • Dwarfism (complications, genetics)
  • Female
  • Fetal Growth Retardation (genetics)
  • Follow-Up Studies
  • Humans
  • Infant
  • Leukocytosis (diagnosis, etiology)
  • Male
  • Microcephaly (complications, genetics)
  • Mutation (genetics)
  • Osteochondrodysplasias (complications, genetics)
  • Prognosis
  • Thrombocytosis (diagnosis, etiology)

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