Recent advances in understanding inheritance of Holoprosencephaly

Christèle Dubourg; Artem Kim; Erwan Watrin; Marie de Tayrac; Sylvie Odent; Véronique David; Valérie Dupé

Recent advances in understanding inheritance of Holoprosencephaly

Christèle Dubourg ^{1, 2} Artem Kim ¹ Erwan Watrin ¹ Marie de Tayrac ^{1, 2} Sylvie Odent ^{1, 2} Véronique David ^{1, 2, *} Valérie Dupé ¹

* Corresponding author

1 IGDR - Institut de Génétique et Développement de Rennes

2 CHU Pontchaillou [Rennes]

Abstract : Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain characterized by high phenotypic and genetic heterogeneity. HPE was initially defined as an autosomal dominant disease, but recent research has shown that its mode of transmission is more complex. The past decade has witnessed rapid development of novel genetic technologies and significant progresses in clinical studies of HPE. In this review, we recapitulate genetic epidemiological studies of the largest European HPE cohort and summarize the novel genetic discoveries of HPE based on recently developed diagnostic methods. Our main purpose is to present different inheritance patterns that exist for HPE with a particular emphasis on oligogenic inheritance and its implications in genetic counseling.

Keywords : oligogenic inheritance holoprosencephaly complex disorder Sonic hedgehog

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Genetics

Complete list of metadatas

Cited literature [83 references] Display Hide Download

https://hal-univ-rennes1.archives-ouvertes.fr/hal-01812521
Contributor : Laurent Jonchère <>
Submitted on : Friday, September 14, 2018 - 11:41:27 AM
Last modification on : Saturday, September 15, 2018 - 1:00:40 AM
Long-term archiving on : Saturday, December 15, 2018 - 12:26:22 PM

Dubourg_Recent advances in und...

Files produced by the author(s)

Recent advances in understanding inheritance of Holoprosencephaly

File

Identifiers

Collections

Citation

Export

Metrics

180

179

Recent advances in understanding inheritance of Holoprosencephaly

File

Identifiers

Collections

Citation

Export

Share

Metrics

180

179