Prenatal Identification of a Novel Mutation in the <i>MCPH1</i> Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature

• Main Authors: Ioannis Papoulidis (Author), Makarios Eleftheriades (Author), Emmanouil Manolakos (Author), Michael B. Petersen (Author), Simoni Marina Liappi (Author), Anastasia Konstantinidou (Author), Maria Papamichail (Author), Vassilios Papadopoulos (Author), Antonios Garas (Author), Sotirios Sotiriou (Author), Ioannis Papastefanou (Author), Georgios Daskalakis (Author), Aleksandar Ristic (Author)
• Format: Book
• Published: MDPI AG, 2022-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: <i>MCPH1</i> is known as the microcephalin gene (OMIM: *607117), of which the encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C-terminus). The microcephalin protein is made up of three BCRT domains and conserved tandem repeats of interacting phosp...