Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype [2]

Clinical Genetics

Volumn 73, Issue 3, 2008, Pages 290-293

  Drera, B ^a   Tadini, G ^b   Barlati, S ^a   Colombi, M ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; COLLAGEN TYPE 3; COLLAGEN TYPE 3A1; CYTOSINE; DNA FRAGMENT; GLYCINE; GUANINE; MESSENGER RNA; THYMINE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; UNCLASSIFIED DRUG; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTERY DISSECTION; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; ELECTROCARDIOGRAM; EXON; FACIES; FEMORAL ARTERY; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INTERNAL ILIAC ARTERY; ITALY; JOINT HYPERMOBILITY; LETTER; LOEYS DIETZ SYNDROME TYPE 2; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PALATE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SUBCUTANEOUS FAT;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANEURYSM; BASE SEQUENCE; COLLAGEN TYPE III; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SYNDROME;

EID: 38949125070     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00942.x     Document Type: Letter

References (9)

1. Loeys BL, Chen J, Neptune ER et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005: 37: 275-281.
2. Loeys BL, Schwarze U, Holm T et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006: 355: 788-798.
3. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000: 342: 673-680.
4. Wrana JL, Attisano L, Wieser R, Ventura F, MassaguéJ. Mechanism of activation of the TGF-beta receptor. Nature 1994: 370: 341-347.
5. Azhar M, Schultz J, Grupp I et al. Transforming growth factor beta in cardiovascular development and function. Cytokine Growth Factor Rev 2003: 14: 391-407.
6. Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 2007: 52: 1-12.
7. Matyas G, Arnold E, Carrel T et al. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat 2006: 27: 760-769.
8. Saitoh M, Nishitoh H, Amagasa T, Miyazono K, Takagi M, Ichijo H. Identification of important regions in the cytoplasmic juxtamembrane domain of type I receptor that separate signaling pathways of transforming growth factor-beta. J Biol Chem 1996: 271: 2769-2775.
9. Habashi JP, Judge DP, Holm TM et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006: 312: 117-121.