Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS)

A Case Report and Review of the Literature

Dados Bibliográficos

ID15714677
AutoresIoannis Papoulidis, Makarios Eleftheriades (0000-0003-4967-2505, National and Kapodistrian University of Athens, autor correspondente), Emmanouil Manolakos (University of Cagliari), Michael B Petersen (0000-0003-0316-8207), Simoni Marina Liappi, Anastasia Konstantinidou (0000-0002-2458-988X, National and Kapodistrian University of Athens), Maria Papamichail (0000-0003-3091-1705, National and Kapodistrian University of Athens, autor correspondente), Vassilios Papadopoulos (0000-0002-1183-8568, University of Patras), Antonios Garas (0000-0001-6914-0819, University of Thessaly), Sotirios Sotiriou (0000-0002-9466-6086, University of Thessaly), Ioannis Papastefanou (0000-0002-7969-1435), G Daskalakis (0000-0001-7108-211X, Alexandra Hospital), Aleksandar J Ristić (0000-0002-7564-1641)
Ano2022
Volume9
Fascículo12
Páginas1879-1879
Data de publicação2022-11-30
Open AccessSim
TipoARTICLE
PeriódicoChildren (JOURNAL)
Identificadores do periódicoISSN: 2227-9067 • E-ISSN: 2227-9067
EditoraMultidisciplinary Digital Publishing Institute (PUBLISHER • CH)
DOI10.3390/children9121879
PMID36553323
OpenAlexW4311051352
IdiomaEN

Our findings portray an association between the new MCPH1 mutation (c.348del) and the clinical features of autosomal recessive primary microcephaly (MCPH), contributing to a broader spectrum related to these pathologies. To our knowledge, this is the first prenatal diagnosis of MCPH due to a novel MCPH1 mutation

Biology · Chorionic villus sampling · Fetus · Gene · Microcephaly · Mutation · Neurodevelopmental disorder · Pregnancy · Prenatal diagnosis · Chromosomal and Genetic Variations · Genetics and Neurodevelopmental Disorders · Microtubule and mitosis dynamics · Genetics