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

Alessandra Renieri; Marco Seri; Lucia Galli; Pablo Cosci; Enrico Imbasciati; Laura Massella; Gianfranco Rizzoni; Gabriella Restagno; Angelo O. Carbonara; Emanuele Stramignoni; Bruno Basolo; Giuseppe Piccoli; Mario De Marchi

doi:10.1007/BF01247348

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

Alessandra Renieri, Marco Seri, Lucia Galli, Pablo Cosci, Enrico Imbasciati, Laura Massella, Gianfranco Rizzoni, Gabriella Restagno, Angelo O. Carbonara, Emanuele Stramignoni, Bruno Basolo, Giuseppe Piccoli, Mario De Marchi

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	417-420
Number of pages	4
Journal	Human Genetics
Volume	92
Issue number	4
DOIs	https://doi.org/10.1007/BF01247348
Publication status	Published - Oct 1993

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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title = "Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome",

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.",

author = "Alessandra Renieri and Marco Seri and Lucia Galli and Pablo Cosci and Enrico Imbasciati and Laura Massella and Gianfranco Rizzoni and Gabriella Restagno and Carbonara, {Angelo O.} and Emanuele Stramignoni and Bruno Basolo and Giuseppe Piccoli and {De Marchi}, Mario",

year = "1993",

month = oct,

doi = "10.1007/BF01247348",

language = "English",

volume = "92",

pages = "417--420",

journal = "Human Genetics",

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T1 - Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome

AU - Renieri, Alessandra

AU - Seri, Marco

AU - Galli, Lucia

AU - Cosci, Pablo

AU - Imbasciati, Enrico

AU - Massella, Laura

AU - Rizzoni, Gianfranco

AU - Restagno, Gabriella

AU - Carbonara, Angelo O.

AU - Stramignoni, Emanuele

AU - Basolo, Bruno

AU - Piccoli, Giuseppe

AU - De Marchi, Mario

PY - 1993/10

Y1 - 1993/10

N2 - 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.

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

Abstract

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