| Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. | |
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MedLine Citation:
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PMID: 19839044 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Maria Piane; Matteo Della Monica; Gianluca Piatelli; Patrizia Lulli; Fortunato Lonardo; Luciana Chessa; Gioacchino Scarano |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Nov |
Date Detail:
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Created Date: 2009-11-05 Completed Date: 2010-01-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2452-6 Citation Subset: IM |
Copyright Information:
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Copyright 2009 Wiley-Liss, Inc. |
Affiliation:
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II School of Medicine, Sapienza University, Roma, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Antigens / genetics* Base Sequence Blotting, Western Bone and Bones / radiography Brain / pathology Case-Control Studies Child, Preschool DNA Mutational Analysis Diagnosis, Differential Dwarfism / complications*, diagnosis*, radiography Female Humans Infant Infant, Newborn Magnetic Resonance Angiography Male Molecular Sequence Data Mutation / genetics* Pregnancy Short Rib-Polydactyly Syndrome / complications*, diagnosis*, radiography Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Antigens; 0/pericentrin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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