View Only- Expanding the Etiology of Holoprosencephaly with Next Generation Sequencing-Slides

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This document discusses research studies and resources related to holoprosencephaly (HPE). Holoprosencephaly is a rare genetic disorder characterized by brain and facial abnormalities. <br /><br />The first paper discussed is by Hughes et al. (2020), which identifies loss-of-function variants in PPP1R12A gene associated with HPE spectrum and urogenital malformations. The second paper by Kruszka et al. (2019) explores the association of holoprosencephaly with the cohesin complex. Another study by Tekendo-Ngongang et al. (2019) investigates novel variants in KMT2D gene associated with holoprosencephaly. Kruszka et al. (2019) also present a study on a variant in the CCR4-NOT transcription complex, subunit 1 (CNOT1) gene associated with HPE. Lastly, Hu et al. (2019) discuss how low-level parental mosaicism influences the recurrence risk of holoprosencephaly.<br /><br />In terms of counseling families affected by holoprosencephaly, the paper by Hadley et al. (2018) highlights the challenging issues that arise during the counseling process. It discusses various aspects that need to be considered when providing genetic counseling for families.<br /><br />The document also provides resources for patients and providers. It mentions the Fetal Medicine Institute, which offers genetic counseling, fetal MRI and ultrasound, and consultations with neurologists and geneticists. It also suggests support groups and websites such as Families for Hope and the Holoprosencephaly Research Organization. Additionally, it mentions resources like the Genetic and Rare Diseases Information Center (GARD) and Genetic Alliance for more information.<br /><br />Overall, this document serves as a summary of research studies and resources related to holoprosencephaly. It provides an overview of recent studies investigating genetic variants associated with HPE and highlights the challenges faced during genetic counseling for affected families. Additionally, it offers resources for further information and support.

Keywords

holoprosencephaly

genetic disorder

brain abnormalities

facial abnormalities

PPP1R12A gene

cohesin complex

KMT2D gene

CCR4-NOT transcription complex

genetic counseling

Fetal Medicine Institute