COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Abstract Background About 40–50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging fro...

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Bibliographic Details
Main Authors: Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides, Constantinos Deltas
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Nephrology
Subjects:
Digenic inheritance
Modifier gene
Familial hematuria
Renal cysts
Collagen IV
FSGS
Online Access:http://link.springer.com/article/10.1186/s12882-018-0906-5

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http://link.springer.com/article/10.1186/s12882-018-0906-5

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