We report on three sibs who have autosomal recessive Clericuzio-type poikiloderma neutropenia (PN) syndrome. Recently, this consanguineous family was reported and shown to be informative in identifying the C16orf57 gene as the causative gene for this syndrome. Here we present the clinical data in detail. PN is a distinct and recognizable entity belonging to the group of poikiloderma syndromes among which Rothmund-Thomson is perhaps the best described and understood. PN is characterized by cutaneous poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. In order to delineate the phenotype of this rare genodermatosis, the clinical presentation together with the molecular investigations in our patients are reported and compared to those from the literature.
Clericuzio-Type Poikiloderma With Neutropenia Syndrome in Three Sibs With Mutations in the C16orf57 Gene : Delineation of the Phenotype / D. Concolino, G. Roversi, G.L. Muzzi, S. Sestito, E.A. Colombo, L. Volpi, L. Larizza, P. Strisciuglio. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS. - ISSN 1552-4868. - 152A:10(2010 Oct), pp. 2588-2594.
|Titolo:||Clericuzio-Type Poikiloderma With Neutropenia Syndrome in Three Sibs With Mutations in the C16orf57 Gene : Delineation of the Phenotype|
ROVERSI, GAIA (Secondo)
LARIZZA, LIDIA (Penultimo)
|Parole Chiave:||poikiloderma ; neutropenia ; C16orf57 gene|
|Settore Scientifico Disciplinare:||Settore MED/03 - Genetica Medica|
|Data di pubblicazione:||ott-2010|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1002/ajmg.a.33600|
|Appare nelle tipologie:||01 - Articolo su periodico|