Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient
Sign Up to like & getrecommendations! Published in 2020 at "Human Genome Variation"
DOI: 10.1038/s41439-020-0105-3
Abstract: Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Patients with MCPH present head circumference values two or three standard deviations (SDs) significantly below the mean for age- and… read more here.
Keywords: primary microcephaly; context cenpj; cenpj variants; unusual context ... See more keywords
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
Sign Up to like & getrecommendations! Published in 2020 at "Nature Communications"
DOI: 10.1038/s41467-020-19658-0
Abstract: Primary microcephaly (MCPH) is characterized by reduced brain size and intellectual disability. The exact pathophysiological mechanism underlying MCPH remains to be elucidated, but dysfunction of neuronal progenitors in the developing neocortex plays a major role.… read more here.
Keywords: primary microcephaly; neurogenesis; dysfunction; rrp7a ... See more keywords
MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-12793-7
Abstract: MCPH1 gene, mutated in primary microcephaly, regulates cell progression into mitosis. While this role has been extensively investigated in the context of DNA damage, its function during unperturbed cell cycles has been given less attention.… read more here.
Keywords: primary microcephaly; mitosis; required efficient; chromosome alignment ... See more keywords
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1710046
Abstract: This study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time,… read more here.
Keywords: primary microcephaly; coincidental time; time; mcph1 ... See more keywords
The Genetics of Primary Microcephaly.
Sign Up to like & getrecommendations! Published in 2018 at "Annual review of genomics and human genetics"
DOI: 10.1146/annurev-genom-083117-021441
Abstract: Primary microcephaly (MCPH, for "microcephaly primary hereditary") is a disorder of brain development that results in a head circumference more than 3 standard deviations below the mean for age and gender. It has a wide… read more here.
Keywords: primary microcephaly; genetics; brain; genetics primary ... See more keywords
Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families
Sign Up to like & getrecommendations! Published in 2022 at "BioMed Research International"
DOI: 10.1155/2022/3769948
Abstract: Microcephaly (MCPH) is a developmental anomaly of the brain known by reduced cerebral cortex and underdeveloped intellectual disability without additional clinical symptoms. It is a genetically and clinically heterogenous disorder. Twenty-five genes (involved in spindle… read more here.
Keywords: microcephaly mcph; cenpj cask; identification pathogenic; primary microcephaly ... See more keywords
Autosomal Recessive Primary Microcephaly: Not Just a Small Brain
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.784700
Abstract: Microcephaly or reduced head circumference results from a multitude of abnormal developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal recessive primary microcephaly (MCPH) is the prototype of isolated primary (congenital) microcephaly, affecting… read more here.
Keywords: recessive primary; primary microcephaly; autosomal recessive; mcph ... See more keywords
Dissecting the Genetic and Etiological Causes of Primary Microcephaly
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.570830
Abstract: Autosomal recessive primary microcephaly (MCPH; “small head syndrome”) is a rare, heterogeneous disease arising from the decreased production of neurons during brain development. As of August 2020, the Online Mendelian Inheritance in Man (OMIM) database… read more here.
Keywords: primary microcephaly; mcph; causes primary; genetic etiological ... See more keywords
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12040594
Abstract: Type 2 congenital microcephaly (MCPH2) is a brain development disorder characterized by primary microcephaly with or without brain malformations. MCPH2 is caused by mutations in the WDR62 gene. We present three new patients with MCPH2… read more here.
Keywords: wdr62 gene; primary microcephaly; phenotype genotype; mutations wdr62 ... See more keywords
Progressive Multifocal Leukoencephalopathy as the Initial Presentation in an Apparently Healthy Child
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_818_20
Abstract: 1. Ashwal S, Michelson D, Plawner L, Dobyns WB; Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Practice parameter: Evaluation of the child with microcephaly… read more here.
Keywords: child; academy neurology; primary microcephaly; neurology ... See more keywords