ŠÍPEK, A., Lucie GRODECKÁ, A. BAXOVÁ, P. CIBULKOVÁ, M. DVOŘÁKOVÁ, Svatava MAZUROVÁ, Michal MAGNER, J. ZEMAN, Tomáš HONZÍK and Tomáš FREIBERGER. Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. HOBOKEN: WILEY-BLACKWELL, 2014, vol. 164, No 6, p. 1559-1564. ISSN 1552-4825. doi:10.1002/ajmg.a.36480.
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Basic information
Original name Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
Authors ŠÍPEK, A. (203 Czech Republic), Lucie GRODECKÁ (203 Czech Republic, belonging to the institution), A. BAXOVÁ (203 Czech Republic), P. CIBULKOVÁ (203 Czech Republic), M. DVOŘÁKOVÁ (203 Czech Republic), Svatava MAZUROVÁ (203 Czech Republic), Michal MAGNER (703 Slovakia), J. ZEMAN (203 Czech Republic), Tomáš HONZÍK (203 Czech Republic) and Tomáš FREIBERGER (203 Czech Republic, guarantor, belonging to the institution).
Other information
Original language English
Type of outcome Article in a journal
Field of Study Genetics and molecular biology
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 2.159
RIV identification code RIV/00216224:14740/14:00079336
Organization unit Central European Institute of Technology
Doi http://dx.doi.org/10.1002/ajmg.a.36480
UT WoS 000335926600028
Keywords in English neonatal Marfan syndrome; FBN1; fibrillin-1; splicing; splicing mutation
Tags EL OK, kontrola MP, MP, podil, rivok
Tags International impact, Reviewed
Changed by Changed by: Martina Prášilová, učo 342282. Changed: 17. 4. 2015 11:21.
Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene (FBN1). Neonatal form of MFS is rare and is associated with severe phenotype and a poor prognosis. We report on a newborn girl with neonatal MFS who displayed cyanosis and dyspnea on the first day of life. The main clinical features included mitral and tricuspid valve insufficiency, aortic root dilatation, arachnodactyly, and loose skin. Despite the presence of severe and inoperable heart anomalies, the girl was quite stable on symptomatic treatment and lived up to the 7th month of age when she died due to cardiorespiratory failure. Molecular-genetic studies revealed a novel intronic c.4211-32_-13del mutation in the FBN1 gene. Subsequent in vitro splicing analysis showed this mutation led to exon 35 skipping, presumably resulting in a deletion of 42 amino acids (p.Leu1405_Asp1446del). Interestingly, this mutation is localized outside the region of exons 24-32, whose mutation is responsible for the substantial majority of cases of neonatal MFS. Although the family history of MFS was negative, the subsequent molecular genetic examination documented a mosaicism of the same mutation in the maternal blood cells (10-25% of genomic DNA) and the detailed clinical examination showed unilateral lens ectopy. (c) 2014 Wiley Periodicals, Inc.
ED1.1.00/02.0068, research and development projectName: CEITEC - central european institute of technology
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