Recent advances in understanding inheritance of holoprosencephaly. Issue 2 (22nd May 2018)

• Record Type: Journal Article
• Authors: Dubourg, Christèle; Kim, Artem; Watrin, Erwan; de Tayrac, Marie; Odent, Sylvie; David, Véronique; Dupé, Valérie
• Other Names: Kruszka Paul S. guestEditor.; Solomon Benjamin D. guestEditor.; Muenke Maximilian guestEditor.
• Is Part Of: American journal of medical genetics. Volume 178:Issue 2(2018)
• Page Start: 258
• Page End: 269
• Publication Date: 2018-05-22
• Subjects: complex disorder -- holoprosencephaly -- oligogenic inheritance -- Sonic hedgehog; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31619
• Languages: English
• ISSNs: 1552-4868

Abstract

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.