Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34

American Journal of Human Genetics

Volumn 65, Issue 6, 1999, Pages 1656-1665

  Karet, Fiona E ^a,i   Finberg, Karin E ^b   Nayir, Ahmet ^c   Bakkaloglu, Aysin ^d   Ozen, Seza ^d   Hulton, Sally A ^e   Sanjad, Sami A ^f   Al Sabban, Essam A ^g   Medina, Juan F ^h   Lifton, Richard P ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ISTANBUL UNIVERSITY   (Turkey)

^d HACETTEPE UNIVERSITY   (Turkey)

^e BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^f AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^g KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^h UNIVERSITY OF NAVARRA   (Spain)

ⁱ ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 7Q; DNA FLANKING REGION; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HEARING; HUMAN; KIDNEY TUBULE ACIDOSIS; MALE; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

EID: 0033358521     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302679     Document Type: Article

References (22)

1. Alpern RJ, Rector FC Jr (1996) Renal acidification mechanisms. In: Brenner BM (ed) Brenner and Rector's the kidney, 5th ed. WB Saunders, Philadelphia, pp 408-471
2. Bell GI, Karam JH, Rutter WJ (1981) Polymorphic DNA region adjacent to the 5′ end of the human insulin gene. Proc Natl Acad Sci USA 78:5759-5763
3. Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, et al (1997) Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (hand 3, AE1) gene. J Clin Invest 100:1693-1707
4. Butler AM, Wilson JL, Farber S (1936) Dehydration and acidosis with calcification at renal tubules. J Pediatr 8:489
5. Craig HD, Gunel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, et al (1998) Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet 7:1851-1858
6. + ATPase in proximal and distal urinary acidification. J Bioenerg Biomembr 24:351-359.
7. Jarolim P, Shayakul C, Prabakaran D, Jiang L, Stuarr-Tilley A, Rubin HL, Simova S, et al (1998) Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) CI/HCO3 exchanger. J Biol Chem 273: 6380-6388
8. +-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21:84-90
9. Karet FE, Gainza FJ, Gyory AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, et al (1998) Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci USA 95:6337-6342
10. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
11. Kurtzman N (1990) Disorders of urinary acidification. Kidney Int 38:720-727
12. Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
13. Lightwood R (1935) Communication no. 1. Arch Dis Child 10:205
14. McSherry E, Morris RC Jr (1978) Attainment and maintenance of normal stature with alkali therapy in infants and children with classic renal tubular acidosis. J Clin Invest 61:509-527
15. +-ATPase 56-kilodalton subunit in renal intercalated cells. Proc Natl Acad Sci USA 89:3541-3545
16. Ott J (1991) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore
17. Palumbo AP, Isobe M, Huebner K, Shane S, Rovera G, Demuth D, Curtis PJ, et al (1986) Chromosomal localization of a human band 3-like gene to region 7q35-7q36. Am J Hum Genet 39:307-316
18. Shimkets RA, Warnock DC, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JR Jr, et al ( 1994) Liddle's syndrome: heritable human hypertension caused by mutations in the β-subunit of the epithelial sodium channel. Cell 79:407-414
19. Silver RB, Frindt G, Mennitt P, Satlin LM (1997) Characterization and regulation of H-K-ATPase in intercalated cells of rabbit cortical collecting duct. J Exp Zool 279:443-455
20. Stevens TH, Forgac M (1997) Structure, function and regulation of the vacuolar (H+)-ATPase. Annu Rev Cell Dev Biol 13:779-808
21. Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, Veerakul G, et al (1998) Novel AE1 mutations in recessive distal renal tubular acidosis: loss-of-function is rescued by glycophorin A. J Clin Invest 102:2173-2179
22. Zakzouk SM, Sobki SH, Mansour F, al Anazy FH (1995) Hearing impairment in association with distal renal tubular acidosis among Saudi children. J Laryngol Otol 109:930-934