Pseudoexon activation in the PKHD1 gene: A French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease

Clinical Genetics

Volumn 75, Issue 2, 2009, Pages 203-206

  Michel Calemard, Laurence ^a   Dijoud, F ^a   Till, M ^b   Lambert, J C ^c   Vercherat, M ^d   Tardy, V ^a,f   Coubes, C ^e   Morel, Y ^a,f  

^a CBPE   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^d CENTRE HOSPITALIER DE CHAMBÉRY   (France)

^e HÔPITAL ARNAUD DE VILLENEUVE   (France)

^f UNIVERSITÉ LYON 1   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; COMPLEMENTARY DNA; FIBROCYSTIN; GUANINE; MESSENGER RNA;

CASE REPORT; DISEASE SEVERITY; EXON; FRANCE; FROZEN SECTION; GENE ACTIVATION; GENE AMPLIFICATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; KIDNEY PARENCHYMA; KIDNEY POLYCYSTIC DISEASE; LETTER; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; RNA ANALYSIS; STOP CODON;

EID: 58849085105     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01106.x     Document Type: Letter

References (13)

1. Guay-Woodford LM. Autosomal recessive polycystic kidney disease. Oxford: Oxford University Press, 1996.
2. Zerres K, Senderek J, Rudnik-Schoneborn S et al. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin Genet 2004: 66 (1): 53-57.
3. Bergmann C, Senderek J, Windelen E et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 2005: 67 (3): 829-848.
4. Losekoot M, Haarloo C, Ruivenkamp C et al. Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Hum Genet 2005: 118 (2): 185-206.
5. Onuchic LF, Furu L, Nagasawa Y et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet 2002: 70 (5): 1305-1317.
6. Ward CJ, Hogan MC, Rossetti S et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 2002: 30 (3): 259-269.
7. Bergmann C, Kupper F, Schmitt CP et al. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). J MEd Genet 2005: 42 (10): e63.
8. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003: 31 (13): 3812-3814.
9. Sharp AM, Messiaen LM, Page G et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet 2005: 42 (4): 336-349.
10. Buratti E, Dhir A, Lewandowska MA et al. RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events. Nucleic Acids Res 2007: 35 (13): 4369-4383.
11. Furu L, Onuchic LF, Gharavi A et al. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J Am Soc Nephrol 2003: 14 (8): 2004-2014.
12. Rossetti S, Torra R, Coto E et al. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int 2003: 64 (2): 391-403.
13. Bergmann C, Senderek J, Schneider F et al. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 2004: 23 (5): 487-495.