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Article

Alport syndrome: impact of digenic inheritance in patients management.

Clinical genetics - 1 Jul 2017

Fallerini C, Baldassarri M, Trevisson E, Morbidoni V, La Manna A, Lazzarin R, Pasini A, Barbano G, Pinciaroli A R, Garosi G, Frullanti E, Pinto A M, Mencarelli M A, Mari F, Renieri A, Ariani F

Abstract excerpt

Alport syndrome (ATS) is a genetically heterogeneous nephropathy with considerable phenotypic variability and different transmission patterns, including monogenic (X-linked/autosomal) and digenic inheritance (DI). Here we present a new series of families with DI and we discuss the consequences for genetic counseling and risk assessment. Out of five families harboring variants in more than one COL4 gene detected...

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Identifiers

PMID: 27859054
DOI: 10.1111/cge.12919

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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