PreprintCase ReportVersion 1Preserved in Portico This version is not peer-reviewed
Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) using Next Generation Sequencing (NGS)
Version 1
: Received: 25 February 2021 / Approved: 2 March 2021 / Online: 2 March 2021 (16:22:48 CET)
How to cite:
Papoulidis, I.; Eleftheriades, M.; Manolakos, E.; Liapi, S. M.; Konstantinidou, A.; Papamichail, M.; Papadipoulos, V.; Garas, A.; Sotiriou, S.; Papastefanou, I.; Daskalakis, G.; Ristic, A. Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) using Next Generation Sequencing (NGS). Preprints2021, 2021030108. https://doi.org/10.20944/preprints202103.0108.v1
Papoulidis, I.; Eleftheriades, M.; Manolakos, E.; Liapi, S. M.; Konstantinidou, A.; Papamichail, M.; Papadipoulos, V.; Garas, A.; Sotiriou, S.; Papastefanou, I.; Daskalakis, G.; Ristic, A. Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) using Next Generation Sequencing (NGS). Preprints 2021, 2021030108. https://doi.org/10.20944/preprints202103.0108.v1
Papoulidis, I.; Eleftheriades, M.; Manolakos, E.; Liapi, S. M.; Konstantinidou, A.; Papamichail, M.; Papadipoulos, V.; Garas, A.; Sotiriou, S.; Papastefanou, I.; Daskalakis, G.; Ristic, A. Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) using Next Generation Sequencing (NGS). Preprints2021, 2021030108. https://doi.org/10.20944/preprints202103.0108.v1
APA Style
Papoulidis, I., Eleftheriades, M., Manolakos, E., Liapi, S. M., Konstantinidou, A., Papamichail, M., Papadipoulos, V., Garas, A., Sotiriou, S., Papastefanou, I., Daskalakis, G., & Ristic, A. (2021). Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) using Next Generation Sequencing (NGS). Preprints. https://doi.org/10.20944/preprints202103.0108.v1
Chicago/Turabian Style
Papoulidis, I., Georgios Daskalakis and Aleksandar Ristic. 2021 "Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) using Next Generation Sequencing (NGS)" Preprints. https://doi.org/10.20944/preprints202103.0108.v1
Abstract
MCPH1, otherwise known as the microcephalin gene (*607117) and 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 phospho-peptide. There is a strong connection between mutations of the MCPH1 and reduced brain growth. Specifically, individuals with such mutations have underdeveloped brains which means smaller size, varying levels of mental retardation, delayed speech and poor language skills, individuals with mild microcephaly and normal intelligence notwithstanding. In this case, a fetus with novel homozygous mutation of the MCPH1 gene ((c.348del)), whose parents were recessive heterozygous for (c.348del), displayed severe microcephaly at 22 weeks of gestation. Due to the effect on splice sites in introns, this mutation causes forming of dysfunctional proteins which lack crucial domains of the C-terminus. 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.
Keywords
microcephalin gene, homozygous, next generation sequencing, microcephaly. MCPH1
Subject
Medicine and Pharmacology, Immunology and Allergy
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.