Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomaslies not linked to the Fibrillin genes

Journal Article · Thu Jul 01 04:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:5852831

Boileau, C; Coulon, M; Alexandre, J -A; Junien, C ^[1]; Jondeau, G; Delorme, G; Dubourg, O; Bourdarias, J -P ^[2]; Babron, M -C; Bonaieti-Pellie, C ^[3]; Sakai, L ^[4]; Melki, J ^[5]

---

1. Laboratorie Central de Biochimie et de Genetique Moleculaire (France)
2. CHU Ambroise Pare, Boulogne (France)
3. INSERM, Chateau de Longchamp, Paris (France)
4. Shriners' Hospital for Crippled Children, Portland, OR (United States)
5. Hopital Necker-Enfants Malades, Paris (France)

The authors describe a large family with a connective-tissue disorder that exhibits some of the skeletal and cardiovascular features seen in Marfan syndrome. However, none of the 19 affected individuals displayed ocular abnormalities and therefore did not comply with recognized criteria for this disease. These patients could alternatively be diagnosed as MASS (mitral valve, aorta, skeleton, and skin) phenotype patients or represent a distinct clinical entity, i.e., a new autosomal dominant connective-tissue disorder. The fibrillin genes located on chromosomes 15 and 5 are clearly involved in the classic form of Marfan syndrome and a clinically related disorder (congenital contractural arachnodactyly), respectively. To test whether one of these genes was also implicated in this French family, the authors performed genetic analyses. Blood samples were obtained for 56 family members, and four polymorphic fibrillin gene markers, located on chromosomes 15 (Fib15) and 5 (Fib5), respectively, were tested. Linkage between the disease allele and the markers of these two genes was excluded with lod scores of [minus]11.39 (for Fib15) and [minus]13.34 (for Fib5), at 0 = .001, indicating that the mutation is at a different locus. This phenotype thus represents a new connective-tissue disorder, overlapping but different from classic Marfan syndrome. 33 refs., 1 fig. 2 tabs.

• OSTI ID: 5852831
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:1; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANIMAL TISSUES
BIOLOGICAL MARKERS
BODY
CHROMOSOMES
CONNECTIVE TISSUE
DETECTION
DISEASES
GENE MUTATIONS
GENETIC MAPPING
HUMAN CHROMOSOME 5
HUMAN CHROMOSOMES
MAPPING
MUTATIONS
RFLPS
TISSUES