Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21

Circulation

Volumn 99, Issue 23, 1999, Pages 3036-3042

  Satoda, Masahiko ^a   Pierpont, Mary Ella M ^b   Diaz, George A ^a   Bornemeier, Renee A ^c   Gelb, Bruce D ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^c ARKANSAS CHILDREN S HOSPITAL   (United States)

Author keywords

Ductus arteriosus, patent; Genes; Genetics; Heart defects, congenital

Indexed keywords

ADULT; ARTICLE; CHAR SYNDROME; CHROMOSOME 6P; CHROMOSOME MAP; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; FACE DYSMORPHIA; FAMILY STUDY; FEMALE; GENE LOCATION; HAND MALFORMATION; HAPLOTYPE; HUMAN; MALE; MARKER GENE; PATENT DUCTUS ARTERIOSUS; PEDIGREE; PRIORITY JOURNAL;

EID: 0033564061     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.99.23.3036     Document Type: Article

References (30)

1. Coceani F. Control of the ductus arteriosus: a new function for cytochrome P450, endothelin and nitric oxide. Biochem Pharmacol. 1994;48: 1315-1318.
2. Gittenberger-de Groot AC, Strengers JLM, Mentink M, Poelmann RE, Patterson DF. Histologic studies on normal and persistent ductus arteriosus in the dog. J Am Coll Cardiol. 1985;6:394-404.
3. Mullins CE, Pagotto L. Patent ductus arteriosus. In: Garson AJ, Bricker JT, Fisher DJ, Neish SR, eds. The Science and Practice of Pediatric Cardiology. Baltimore, Md: Williams & Wilkins; 1998;1181-1197.
4. Nora JJ, Nora AH. Update on counseling the family with a first degree relative with a congenital heart defect. Am J Med Genet. 1988;29: 137-142.
5. Gibson S, Lewis K. Congenital heart disease following maternal rubella during pregnancy. Am J Dis Child. 1952;83:317-319.
6. Zetterqvist PA. Clinical and Genetic Study of Congenital Heart Defects [thesis]. Uppsala, Sweden: University of Uppsala: 1972.
7. Nguyen MT, Camenisch T, Snouwaert JN, Hicks E, Coffman TM, Anderson PAW, Malouf NN, Koller BH. The prostaglandin receptor EP4 triggers remodeling of the cardiovascular system at birth. Nature. 1997; 390:78-81.
8. Char F. Peculiar facies with short philtrum, duck-bill lips, ptosis, and low-set ears: a new syndrome? Birth Defects Orig Art Ser. 1978;14(6B): 303-305.
9. Sletten LJ, Pierpont MEM. Familial occurrence of patent ductus arteriosus. Am J Med Genet. 1995;57:27-30.
10. Gelb BD, Edelson JG, Desnick RJ. Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet. 1995;10:235-237.
11. Adams P. LABMAN and LINKMAN: a data management system specifically designed for genome searches of complex diseases. Genet Epidemiol. 1994;11:87-98.
12. Lathrop GM, Lalouel JM, Julier C, Ou J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985;37:482-498.
13. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995;11: 241-247.
14. Mücher G, Becker J, Knapp M, Büttner R, Moser M, Rudnick-Schönebron S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L, Zerres K. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2B, and GSTA1 at 6p21.1-p12. Genomics. 1998;48:40-45.
15. Lens XM, Onuchic LF, Wu G, Hayashi T, Daoust M, Mochizuki T, Santarina LB, Stockwin JM, Mücher G, Becker J, Sweeney WEJ, Avner ED, Guay-Woodford L, Zerres K, Somlo S, Germino GG. An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. Genomics. 1997;41:463-466.
16. Board PG, Webb GC. Isolation of a cDNA clone and localization of human glutathione S-transferase 2 genes to chromosome band 6p12. Proc Natl Acad Sci U S A. 1987;84:2377-2381.
17. Kwiatkowski TJ Jr, Beaudet AL, Trask BJ, Zoghbi HY. Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. Genomics. 1991;10:921-926.
18. Bond JS, Rojas K, Overhauser J, Zoghbi HY, Jiang W. The structural genes, MEP1A and MEP1B, for the alpha and beta subunits of the metalloendopeptidase meprin map to human chromosome 6p and 18q, respectively. Genomics. 1995;25:300-303.
19. Zerres K, Mücher G, Bachner L, Deschennes G, Eggermann T, Kääriäinen H, Knapp M, Lennert T, Misselwitz J, von Muhlendahl KE. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994;7:429-432.
20. Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seidman CE. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med. 1994;330:885-891.
21. Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997;15:30-35.
22. Slavotinek A, Clayton-Smith J, Super M. Familial patent ductus arteriosus: a further case of CHAR syndrome. Am J Med Genet. 1997;71: 229-232.
23. Davidson HR. A large family with patent ductus arteriosus and unusual face. J Med Genet. 1993;30:503-505.
24. Temple IK. Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). Clin Dysmorphol. 1992;1:17-21.
25. Martin RP, Banner NR, Radley-Smith R. Familial persistent ductus arteriosus. Arch Dis Child. 1986;61:906-907.
26. Rogers JC, Begleiter ML, Harris DJ. Patent ductus arteriosus in four generations of a family. J Med Genet. 1992;29:758. Letter.
27. Woods CG, Sheffield LJ. Further family with autosomal dominant patent ductus arteriosus. J Med Genet. 1994;31:659. Letter
28. Waldo KL, Kirby ML. Cardiac neural crest contribution to the pulmonary artery and sixth aortic arch artery complex in chick embryos aged 6 to 18 days. Anat Rec. 1993;237:385-399.
29. Wilson GN. Correlated heart/limb anomalies in Mendelian syndromes provide evidence for a cardiomelic developmental field. Am J Med Genet. 1998;76:297-305.
30. Nagata T, Weiss EH, Abe K, Kitagawa K, Ando A, Yara-Kikuti Y, Seldin MF, Ozato K, Inoko H, Taketo M. Physical mapping of the retinoid X receptor B gene in mouse and human. Immunogenetics. 1995;41:83-90.