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

Maria Piane, Matteo Della Monica, Gianluca Piatelli, Patrizia Lulli, Fortunato Lonardo, Luciana Chessa, Gioacchino Scarano

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)2452-2456
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number11
DOIs
Publication statusPublished - Nov 2009

Keywords

  • Cerebral vasculopathy
  • MOPD II
  • PCNT gene
  • Seckel syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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