Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested.
Piane
Maria
M
II School of Medicine, Sapienza University, Roma, Italy.
Della Monica
Matteo
M
Piatelli
Gianluca
G
Lulli
Patrizia
P
Lonardo
Fortunato
F
Chessa
Luciana
L
Scarano
Gioacchino
G
D000328:Adult; D000941:Antigens / Q000235:genetics*; D001483:Base Sequence; D015153:Blotting, Western; D001842:Bone and Bones / Q000000981:diagnostic imaging; D001921:Brain / Q000473:pathology; D016022:Case-Control Studies; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000150:complications* / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018810:Magnetic Resonance Angiography; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000000981:diagnostic imaging; D013577:Syndrome
D000941:Antigens; C086178:pericentrin