Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

Eileen Boye; David Vetrie; Frances Flinter; Brenda Buckle; Taina Pihlajaniemi; Eija Riitta Hamalainen; Jeanne C. Myers; Martin Bobrow; Ann Harris

doi:10.1016/0888-7543(91)90040-L

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

Eileen Boye, David Vetrie, Frances Flinter, Brenda Buckle, Taina Pihlajaniemi, Eija Riitta Hamalainen, Jeanne C. Myers, Martin Bobrow, Ann Harris^*

^*Corresponding author for this work

Pediatrics

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

57 Scopus citations

Abstract

The gene coding for the α5 chain of type IV collagen (α5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3′ end of the α5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this gene. Each of these patients shows a gross rearrangement of DNA: a deletion of at least 35 kb, an insertion/deletion event involving approximately 25 kb, and a duplication of at least 35 kb of DNA.

Original language	English (US)
Pages (from-to)	1125-1132
Number of pages	8
Journal	Genomics
Volume	11
Issue number	4
DOIs	https://doi.org/10.1016/0888-7543(91)90040-L
State	Published - Dec 1991

Funding

The authors thank Dr. John Hoyer for his help in obtaining partial cDNA probes for &IV) collagen, the renal physicians at Guy’s Hospital for patient access, the Alport patients themselves for giving the blood samples, Dr. Ellen Solomon for critical reading of the manuscript, and Lynette Noble for secretarial assistance. This work was supported by the National Kidney Research Fund, the Medical Research Council, The Generation Trust, and the Spastics Society. Isolation of nS(IV) collagen cDNA clones was supported by NIH Grant AM20553 (to J.C.M.), and the HE6 clone was isolated by Attia Kadri. D. V. is a U.K. Commonwealth Scholar.

ASJC Scopus subject areas

Genetics

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title = "Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome",

abstract = "The gene coding for the α5 chain of type IV collagen (α5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3′ end of the α5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this gene. Each of these patients shows a gross rearrangement of DNA: a deletion of at least 35 kb, an insertion/deletion event involving approximately 25 kb, and a duplication of at least 35 kb of DNA.",

author = "Eileen Boye and David Vetrie and Frances Flinter and Brenda Buckle and Taina Pihlajaniemi and Hamalainen, {Eija Riitta} and Myers, {Jeanne C.} and Martin Bobrow and Ann Harris",

note = "Funding Information: The authors thank Dr. John Hoyer for his help in obtaining partial cDNA probes for &IV) collagen, the renal physicians at Guy{\textquoteright}s Hospital for patient access, the Alport patients themselves for giving the blood samples, Dr. Ellen Solomon for critical reading of the manuscript, and Lynette Noble for secretarial assistance. This work was supported by the National Kidney Research Fund, the Medical Research Council, The Generation Trust, and the Spastics Society. Isolation of nS(IV) collagen cDNA clones was supported by NIH Grant AM20553 (to J.C.M.), and the HE6 clone was isolated by Attia Kadri. D. V. is a U.K. Commonwealth Scholar.",

year = "1991",

month = dec,

doi = "10.1016/0888-7543(91)90040-L",

language = "English (US)",

volume = "11",

pages = "1125--1132",

journal = "Genomics",

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publisher = "Academic Press Inc.",

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AU - Boye, Eileen

AU - Vetrie, David

AU - Flinter, Frances

AU - Buckle, Brenda

AU - Pihlajaniemi, Taina

AU - Hamalainen, Eija Riitta

AU - Myers, Jeanne C.

AU - Bobrow, Martin

AU - Harris, Ann

N1 - Funding Information: The authors thank Dr. John Hoyer for his help in obtaining partial cDNA probes for &IV) collagen, the renal physicians at Guy’s Hospital for patient access, the Alport patients themselves for giving the blood samples, Dr. Ellen Solomon for critical reading of the manuscript, and Lynette Noble for secretarial assistance. This work was supported by the National Kidney Research Fund, the Medical Research Council, The Generation Trust, and the Spastics Society. Isolation of nS(IV) collagen cDNA clones was supported by NIH Grant AM20553 (to J.C.M.), and the HE6 clone was isolated by Attia Kadri. D. V. is a U.K. Commonwealth Scholar.

PY - 1991/12

Y1 - 1991/12

N2 - The gene coding for the α5 chain of type IV collagen (α5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3′ end of the α5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this gene. Each of these patients shows a gross rearrangement of DNA: a deletion of at least 35 kb, an insertion/deletion event involving approximately 25 kb, and a duplication of at least 35 kb of DNA.

AB - The gene coding for the α5 chain of type IV collagen (α5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3′ end of the α5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this gene. Each of these patients shows a gross rearrangement of DNA: a deletion of at least 35 kb, an insertion/deletion event involving approximately 25 kb, and a duplication of at least 35 kb of DNA.

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Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

Abstract

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ASJC Scopus subject areas

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