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 becameparalyzeddue to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised toMajewski osteodysplasticprimordial dwarfism type II (MOPDII) 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. © 2009 Wiley-Liss, Inc.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene / Piane, Maria; Matteo Della, Monica; Gianluca, Piatelli; Lulli, Patrizia; Fortunato, Lonardo; Chessa, Luciana; Gioacchino, Scarano. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 149:11(2009), pp. 2452-2456. [10.1002/ajmg.a.33035]

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene

PIANE, Maria;LULLI, Patrizia;CHESSA, Luciana;
2009

Abstract

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 becameparalyzeddue to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised toMajewski osteodysplasticprimordial dwarfism type II (MOPDII) 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. © 2009 Wiley-Liss, Inc.
2009
cerebral vasculopathy; mopd ii; pcnt gene; seckel syndrome
01 Pubblicazione su rivista::01a Articolo in rivista
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene / Piane, Maria; Matteo Della, Monica; Gianluca, Piatelli; Lulli, Patrizia; Fortunato, Lonardo; Chessa, Luciana; Gioacchino, Scarano. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 149:11(2009), pp. 2452-2456. [10.1002/ajmg.a.33035]
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/226018
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 10
  • Scopus 31
  • ???jsp.display-item.citation.isi??? 29
social impact