Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

Clinical Genetics

Volumn 84, Issue 4, 2013, Pages 392-393

  Hogue, J ^a   Lee, C ^b   Jelin, A ^b   Strecker, Mn ^c   Cox, Va ^b   Slavotinek, Am ^b  

^a BROOKE ARMY MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CombiMatrix Diagnostics ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR; FIBRILLIN 1;

ADULT; CASE REPORT; CONNECTIVE TISSUE DISEASE; FAMILY STUDY; FEMALE; GENE MUTATION; HISPANIC; HOMOZYGOSITY; HUMAN; LETTER; MARFAN SYNDROME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ALLELES; FEMALE; HOMOZYGOTE; HUMANS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; PHENOTYPE;

EID: 84883746109     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12073     Document Type: Letter

References (6)

1. Loeys BL, Dietz HC, Braverman AC et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010: 47: 476-485.
2. Karttunen L, Raghunath M, Lonnqvist L, Peltonen L. A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. Am J Hum Genet 1994: 55: 1083-1091.
3. de Vries BB, Pals G, Odink R, Hamel BC. Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome. Eur J Hum Genet 2007: 15: 930-935.
4. Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y et al. Compound-heterozygous Marfan syndrome. Eur J Med Genet 2009: 52: 1-5.
5. Hilhorst-Hofstee Y, Rijlaarsdam MEB, Scholte AJHA et al. The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family. Hum Mutat 2010: 31: E1915-E1927.
6. Pereira L, Lee SY, Gayraud B et al. Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci U S A 1999: 96: 3819-3823.