Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: A new X linked contiguous gene deletion syndrome?

Journal of Medical Genetics

Volumn 35, Issue 4, 1998, Pages 273-278

  Jonsson, Jon J ^a,d   Renieri, Alessandra ^b   Gallagher, Patrick G ^a   Kashtan, Clifford E ^c   Cherniske, Elizabeth M ^a   Bruttini, Mirella ^b   Piccini, Monica ^b   Vitelli, Francesca ^b   Ballabio, Andrea ^b   Pober, Barbara R ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

^c UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^d Department of Clinical Biochemistry ^*  (Iceland)

Author keywords

Alport syndrome; Elliptocytosis; Mental retardation; Midface hypoplasia

Indexed keywords

COLLAGEN TYPE 4;

ALPORT SYNDROME; ARTICLE; CASE REPORT; CHROMOSOME DELETION X; ELLIPTOCYTOSIS; FEMALE; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MENTAL DEFICIENCY; MIDFACE HYPOPLASIA; PRIORITY JOURNAL; SYNDROME DELINEATION; X CHROMOSOME LINKAGE;

EID: 17344373749     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.4.273     Document Type: Article

References (9)

1. Kashtan CE, Michael AF. Alport syndrome. Kidney Int 1996;50:1445-63.
2. Barker DF, Hostikka SL, Zhou J, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990;248:1224-7.
3. Mochizuki T, Lemmink HH, Mariyama M, et al. Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 1994;8:77-81.
4. Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grunfeld JP. Genetic heterogeneity of Alport syndrome. Kidney Int 1985;27:672-7.
5. Renieri A, Bruttini M, Galli L, et al. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet 1996;58:1192-204.
6. Knebelmann B, Breillat C, Forestier L, et al. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am J Hum Genet 1996;59:1221-32.
7. Antignac C, Knebelmann B, Drouot L, et al. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. J Clin Invest 1994;93:1195-207.
8. Renieri A, Galli L, Grillo A, et al. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. Am J Med Genet 1995;59:380-5.
9. Zhou J, Mochizuki T, Smeets H, et al. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Science 1993;261:1167-9.