Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population

Pathologie Biologie

Volumn 60, Issue 6, 2012, Pages

  Chaari, I ^a   Trabelsi, M ^a   Goucha, R ^b   Elaribi, Y ^b   Kharrat, M ^a   Guarguah, T ^b   Maazoul, F ^b   Chaabouni, H ^a,b   M'rad, R ^a,b  

^a UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^b CHARLES NICOLLE HOSPITAL   (Tunisia)

Author keywords

Consanguinity; Incidence; Nephronophthisis; NPHP1 homozygous deletion; Prevalence

Indexed keywords

NPHP1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; CHILD; CLINICAL FEATURE; ETHNIC GROUP; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INCIDENCE; KIDNEY BIOPSY; LETTER; MAJOR CLINICAL STUDY; MALE; NEPHRONOPHTHISIS; NPHP1 GENE; PRESCHOOL CHILD; PREVALENCE; SCHOOL CHILD; SEX RATIO; SYMPTOMATOLOGY; TUNISIAN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; GENE DELETION; HOMOZYGOTE; HUMANS; KIDNEY DISEASES, CYSTIC; KIDNEY FAILURE, CHRONIC; MALE; MEMBRANE PROTEINS; TUNISIA; YOUNG ADULT;

EID: 84870390942     PISSN: 03698114     EISSN: 17683114     Source Type: Journal    
DOI: 10.1016/j.patbio.2012.05.003     Document Type: Letter

References (9)

1. Hildebrandt F., Attanasio M., Otto E.A. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 2009, 20:23-35.
2. Saunier S., Salomon R., Antignac C. Nephronophthisis. Curr Opin Genet Dev 2005, 15:324-331.
3. Caridi G., Daagnino M., Gusmano R., Ginevri F., Murer L., Ghio L., et al. Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening. Am J Kidney Dis 2000, 35:44-51.
4. Hildebrandt F., Rensing C., Betz R., Sommer U., Birnbaum S., Imm A., et al. Establishing an algorithm for molecular genetics diagnostics in 127 families with juvenile nephronophthisis. Kidney Int 2001, 59:434-445.
5. Otto E.A., Helou J., Allen S.J., O'Toole J.F., Wise E.L., Ashraf S., et al. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping. CEL I endonuclease cleavage, and direct sequencing. Hum Mutat 2008, 29:418-426.
6. Dahlberg G. Mathematical methods for population genetics 1947, Basel: Karger, pp. 61-7.
7. Soliman N.A., Hildebrandt F., Allen S.J., Otto E.A., Nabhan M.M., Badr A.M. Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient. Pediatr Nephrol 2010, 25:2193-2194.
8. Chessa L., Lisa A., Fiorani O., Zei G. Ataxia-Telangiectasia in Italy: genetic analysis. Int J Radiat Biol 1994, 66(6 Suppl.):S31-S33.
9. Hayakawa M., Fujiki K., Kanai A., Matsumura M., Honda Y., Sakaue H., et al. Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa. Jpn J Ophthalmol 1997, 41:7-11.