COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9

Nephrology Dialysis Transplantation

Volumn 27, Issue 11, 2012, Pages 4236-4240

  Strasser, Katja ^a   Hoefele, Julia ^b   Bergmann, Carsten ^c   Büscher, Anja K ^a   Büscher, Rainer ^a   Hoyer, Peter F ^a   Weber, Stefanie ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b Center for Human Genetics and Laboratory Medicine Dr Klein and Dr Rost   (Germany)

^c Bioscientia Center for Human Genetics   (Germany)

Author keywords

COL4A5; early sensorineural hearing loss; MYH9

Indexed keywords

ADENINE; ARGININE; COLLAGEN TYPE 4; COLLAGEN TYPE 4A5; CREATININE; CYTOSINE; DNA; GLYCINE; GUANINE; METHIONINE; THREONINE; THYMINE; UNCLASSIFIED DRUG;

ALPORT SYNDROME; ARTICLE; CHILD; COL4A5 GENE; CORNEA LESION; CREATININE CLEARANCE; DISEASE SEVERITY; DNA SEQUENCE; ELECTRON MICROSCOPY; EXON; FEMALE; GENE; GENE MUTATION; HEMATURIA; HEMIZYGOSITY; HEMODIALYSIS; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY FAILURE; MALE; MAY HEGGLIN ANOMALY; MUTATIONAL ANALYSIS; MYH9 GENE; OPHTHALMOSCOPY; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; SEQUENCE ANALYSIS; URINALYSIS; X CHROMOSOME LINKED DISORDER;

CHILD; COLLAGEN TYPE IV; DEAFNESS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MOLECULAR MOTOR PROTEINS; MUTATION; MYOSIN HEAVY CHAINS; NEPHRITIS, HEREDITARY;

EID: 84869431092     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfs468     Document Type: Article

References (20)

1. Nagel M, Nagorka S, Gross O. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. Hum Mutat 2005; 26(1):60
2. Marcocci E, Uliana V, Bruttini M et al. Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Nephrol Dial Transplant 2009; 24:1464-1471.
3. Gubler MC. Diagnosis of Alport syndrome without biopsy? Pediatr Nephrol 2007; 22:621-625. (Pubitemid 46691515)
4. Rheault MN. Women and Alport syndrome. Pediatr Nephrol 2012; 27:41-46.
5. Jais JP, Knebelmann B, Giatras I et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a 'European Community Alport Syndrome Concerted Action' study. J Am Soc Nephrol 2003; 14:2603-2610. (Pubitemid 37169346)
6. Jais JP, Knebelmann B, Giatras I et al. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 2000; 11:649-657. (Pubitemid 30171874)
7. Seri M, Pecci A, Di Bari F et al. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 2003; 82:203-215. (Pubitemid 36578709)
8. Martignetti JA, Heath KE, Harris J et al. The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. Am J Hum Genet 2000; 66:1449-1454. (Pubitemid 30468803)
9. Toothaker LE, Gonzalez DA, Tung N et al. Cellular myosin heavy chain in human leukocytes: isolation of 5-cDNA clones, characterization of the protein, chromosomal localization and upregulation during myeloid differentiation. Blood 1991; 78:1826-1833.
10. Lalwani AK, Goldstein JA, Kelley MJ et al. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 2000; 67:1121-1128.
11. Epstein CJ, Sahud MA, Piel CF et al. Hereditary macrothrombocto-pathia, nephritis and deafness. Am J Med 1972; 52:299-310.
12. Pecci A, Panza E, Pujol-Moix N et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008; 29:409-417. (Pubitemid 351364943)
13. 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; 59:1221-1232. (Pubitemid 26394113)
14. North American Pediatric Renal Transplant Cooperative Study (NAPRTCS). Annual Report 2008
15. Boye E, Flinter F, Zhou J et al. Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. Hum Mutat 1995; 5:197-204.
16. Provaznikova D, Geierova V, Kumstyrova T et al. Clinical manifestation and molecular genetic characterization of MYH9 disorders. Platelets 2009; 20:289-296.
17. Vetrie D, Flinter F, Bobrow M et al. X inactivation patterns in females with Alport's syndrome: a means of selecting against deleterious gene? J Med Genet 1992; 29:663-666.
18. Shimizu Y, Nagata M, Usui J et al. Tissue-specific distribution of an alternatively spliced COL4A5 isoform and non-random X chromosome inactivation reflect phenotypic variation in heterozygous X-linked Alport syndrome. Nephrol Dial Transplant 2006; 21:1582-1587. (Pubitemid 44063128)
19. Deakin JE, Chaumeil J, Hore TA et al. Unravelling the evolutionary origins of X chromosome inactivation in mammals: insights from marsupials and monotremes. Chromosome Res 2009; 17:671-685.
20. Archer H, Evans J, Leonard H et al. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J Med Genet 2007; 44:148-152.