Molecular Genetics of Microcephaly Primary Hereditary: An Overview

MicroCephaly Primary Hereditary (MCPH) is a rare congenital neurodevelopmental disorder characterized by a significant reduction of the occipitofrontal head circumference and mild to moderate mental disability. Patients have small brains, though with overall normal architecture; therefore, studying...

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Autores principales: Siskos, Nikistratos, Stylianopoulou, Electra, Skavdis, Georgios, Grigoriou, Maria E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8145766/
https://www.ncbi.nlm.nih.gov/pubmed/33946187
http://dx.doi.org/10.3390/brainsci11050581
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author Siskos, Nikistratos
Stylianopoulou, Electra
Skavdis, Georgios
Grigoriou, Maria E.
author_facet Siskos, Nikistratos
Stylianopoulou, Electra
Skavdis, Georgios
Grigoriou, Maria E.
author_sort Siskos, Nikistratos
collection PubMed
description MicroCephaly Primary Hereditary (MCPH) is a rare congenital neurodevelopmental disorder characterized by a significant reduction of the occipitofrontal head circumference and mild to moderate mental disability. Patients have small brains, though with overall normal architecture; therefore, studying MCPH can reveal not only the pathological mechanisms leading to this condition, but also the mechanisms operating during normal development. MCPH is genetically heterogeneous, with 27 genes listed so far in the Online Mendelian Inheritance in Man (OMIM) database. In this review, we discuss the role of MCPH proteins and delineate the molecular mechanisms and common pathways in which they participate.
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spelling pubmed-81457662021-05-26 Molecular Genetics of Microcephaly Primary Hereditary: An Overview Siskos, Nikistratos Stylianopoulou, Electra Skavdis, Georgios Grigoriou, Maria E. Brain Sci Review MicroCephaly Primary Hereditary (MCPH) is a rare congenital neurodevelopmental disorder characterized by a significant reduction of the occipitofrontal head circumference and mild to moderate mental disability. Patients have small brains, though with overall normal architecture; therefore, studying MCPH can reveal not only the pathological mechanisms leading to this condition, but also the mechanisms operating during normal development. MCPH is genetically heterogeneous, with 27 genes listed so far in the Online Mendelian Inheritance in Man (OMIM) database. In this review, we discuss the role of MCPH proteins and delineate the molecular mechanisms and common pathways in which they participate. MDPI 2021-04-30 /pmc/articles/PMC8145766/ /pubmed/33946187 http://dx.doi.org/10.3390/brainsci11050581 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Siskos, Nikistratos
Stylianopoulou, Electra
Skavdis, Georgios
Grigoriou, Maria E.
Molecular Genetics of Microcephaly Primary Hereditary: An Overview
title Molecular Genetics of Microcephaly Primary Hereditary: An Overview
title_full Molecular Genetics of Microcephaly Primary Hereditary: An Overview
title_fullStr Molecular Genetics of Microcephaly Primary Hereditary: An Overview
title_full_unstemmed Molecular Genetics of Microcephaly Primary Hereditary: An Overview
title_short Molecular Genetics of Microcephaly Primary Hereditary: An Overview
title_sort molecular genetics of microcephaly primary hereditary: an overview
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8145766/
https://www.ncbi.nlm.nih.gov/pubmed/33946187
http://dx.doi.org/10.3390/brainsci11050581
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