Pathology vs. molecular genetics: (Re)defining the spectrum of Alport syndrome

Jeffrey H. Miner

doi:10.1038/ki.2014.326

Pathology vs. molecular genetics: (Re)defining the spectrum of Alport syndrome

Jeffrey H. Miner

Research output: Contribution to journal › Comment/debate

44 Scopus citations

Abstract

Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. These data show that a subset of renal manifestations associated with COL4A3 or COL4A4 variants cannot be distinguished from FSGS by clinical data or histopathology. Thus, a diagnosis of FSGS may sometimes fall within the spectrum of Alport syndrome.

Original language	English
Pages (from-to)	1081-1083
Number of pages	3
Journal	Kidney International
Volume	86
Issue number	6
DOIs	https://doi.org/10.1038/ki.2014.326
State	Published - Jan 1 2014

Keywords

Alport syndrome
FSGS
Genetics
Glomerular disease

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10.1038/ki.2014.326

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title = "Pathology vs. molecular genetics: (Re)defining the spectrum of Alport syndrome",

abstract = "Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10\% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. These data show that a subset of renal manifestations associated with COL4A3 or COL4A4 variants cannot be distinguished from FSGS by clinical data or histopathology. Thus, a diagnosis of FSGS may sometimes fall within the spectrum of Alport syndrome.",

keywords = "Alport syndrome, FSGS, Genetics, Glomerular disease",

author = "Miner, \{Jeffrey H.\}",

note = "Funding Information: This Commentary is dedicated to the memory of Dr Michelle Winn and our shared fondness for mangoes. I thank Cliff Kashtan for helpful comments. My research on kidney disease is supported by grants from the National Institutes of Health (R01-DK078314 and R21-DK095419), the Alport Syndrome Foundation, and the American Heart Association Midwest Affiliate (14GRNT20370035).",

year = "2014",

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T2 - (Re)defining the spectrum of Alport syndrome

AU - Miner, Jeffrey H.

N1 - Funding Information: This Commentary is dedicated to the memory of Dr Michelle Winn and our shared fondness for mangoes. I thank Cliff Kashtan for helpful comments. My research on kidney disease is supported by grants from the National Institutes of Health (R01-DK078314 and R21-DK095419), the Alport Syndrome Foundation, and the American Heart Association Midwest Affiliate (14GRNT20370035).

PY - 2014/1/1

Y1 - 2014/1/1

N2 - Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. These data show that a subset of renal manifestations associated with COL4A3 or COL4A4 variants cannot be distinguished from FSGS by clinical data or histopathology. Thus, a diagnosis of FSGS may sometimes fall within the spectrum of Alport syndrome.

AB - Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. These data show that a subset of renal manifestations associated with COL4A3 or COL4A4 variants cannot be distinguished from FSGS by clinical data or histopathology. Thus, a diagnosis of FSGS may sometimes fall within the spectrum of Alport syndrome.

KW - Alport syndrome

KW - FSGS

KW - Genetics

KW - Glomerular disease

UR - https://www.scopus.com/pages/publications/84961290678

U2 - 10.1038/ki.2014.326

DO - 10.1038/ki.2014.326

M3 - Comment/debate

C2 - 25427084

AN - SCOPUS:84961290678

SN - 0085-2538

VL - 86

SP - 1081

EP - 1083

JO - Kidney International

JF - Kidney International

IS - 6

ER -

Pathology vs. molecular genetics: (Re)defining the spectrum of Alport syndrome

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