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Recent advances in understanding inheritance of holoprosencephaly
Author(s) -
Dubourg Christèle,
Kim Artem,
Watrin Erwan,
de Tayrac Marie,
Odent Sylvie,
David Véronique,
Dupé Valérie
Publication year - 2018
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31619
Subject(s) - holoprosencephaly , inheritance (genetic algorithm) , biology , genetic heterogeneity , multifactorial inheritance , genetic epidemiology , evolutionary biology , genetics , phenotype , gene , genotype , pregnancy , fetus , single nucleotide polymorphism
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.