Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.
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.
Concolino
D
D
Dipartimento di Pediatria, Università Magna Graecia, Ospedale Civile A. Pugliese, Catanzaro, Italy. dconcolino@unicz.it
Roversi
G
G
Muzzi
G L
GL
Sestito
S
S
Colombo
E A
EA
Volpi
L
L
Larizza
L
L
Strisciuglio
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D017668:Age of Onset; D005260:Female; D020690:GTPase-Activating Proteins; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000150:complications / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D035781:Siblings; D012871:Skin Diseases / Q000235:genetics; D012880:Skin Pigmentation / Q000235:genetics; D013577:Syndrome
D020690:GTPase-Activating Proteins; C543618:NPRL3 protein, human; D009687:Nuclear Proteins