Literature DB >> 8225325

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

A Renieri1, M Seri, L Galli, P Cosci, E Imbasciati, L Massella, G Rizzoni, G Restagno, A O Carbonara, E Stramignoni.   

Abstract

Small frameshift deletions within the COL4A5 gene were identified in three Alport syndrome Italian families by non-isotopic single-strand conformation polymorphism (SSCP) screening: in family RMA, a 7-bp deletion (GGGTGAA) in exon 39; in family DGR, a 4-bp deletion (TGGA) in exon 41; in family MIB, deletion of a G in exon 50. The phenotype was characterized by juvenile-onset renal failure with sensorineural hearing loss in males, and a milder clinical pattern in heterozygous females.

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Year:  1993        PMID： 8225325     DOI： 10.1007/bf01247348

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  18 in total

1.  The molecular genetics of Alport syndrome: report of two workshops.

Authors:  F Flinter; M Bobrow
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  Nonradioactive labeling of probe with digoxigenin by polymerase chain reaction.

Authors:  T Lion; O A Haas
Journal:  Anal Biochem       Date:  1990-08-01       Impact factor: 3.365

3.  Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.

Authors:  M Krawczak; D N Cooper
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

4.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

5.  Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product.

Authors:  J Zhou; J M Hertz; K Tryggvason
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

6.  Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.

Authors:  S L Hostikka; R L Eddy; M G Byers; M Höyhtyä; T B Shows; K Tryggvason
Journal:  Proc Natl Acad Sci U S A       Date:  1990-02       Impact factor: 11.205

7.  Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.

Authors:  E Boye; D Vetrie; F Flinter; B Buckle; T Pihlajaniemi; E R Hamalainen; J C Myers; M Bobrow; A Harris
Journal:  Genomics       Date:  1991-12       Impact factor: 5.736

8.  Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

Authors:  B Knebelmann; G Deschenes; F Gros; M C Hors; J P Grünfeld; J Zhou; K Tryggvason; M C Gubler; C Antignac
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

9.  De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

Authors:  A Renieri; M Seri; J C Myers; T Pihlajaniemi; L Massella; G Rizzoni; M De Marchi
Journal:  Hum Mol Genet       Date:  1992-05       Impact factor: 6.150

10.  Genetic heterogeneity among kindreds with Alport syndrome.

Authors:  S J Hasstedt; C L Atkin; A C San Juan
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025
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  3 in total

1.  Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

Authors:  B Knebelmann; C Breillat; L Forestier; C Arrondel; D Jacassier; I Giatras; L Drouot; G Deschênes; J P Grünfeld; M Broyer; M C Gubler; C Antignac
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

2.  Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.

Authors:  Laura Massella; Concetta Gangemi; Kostas Giannakakis; Antonella Crisafi; Tullio Faraggiana; Chiara Fallerini; Alessandra Renieri; Andrea Onetti Muda; Francesco Emma
Journal:  Clin J Am Soc Nephrol       Date:  2013-01-31       Impact factor: 8.237

3.  X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Authors:  A Renieri; M Bruttini; L Galli; P Zanelli; T Neri; S Rossetti; A Turco; N Heiskari; J Zhou; R Gusmano; L Massella; G Banfi; F Scolari; A Sessa; G Rizzoni; K Tryggvason; P F Pignatti; M Savi; A Ballabio; M De Marchi
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025
  3 in total

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