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- W3092842165 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 lists 25 genes (involved in molecular processes such as centriole biogenesis, microtubule dynamics, spindle positioning, DNA repair, transcriptional regulation, Wnt signaling, and cell cycle checkpoints) that are implicated in causing MCPH. Many of these 25 genes were only discovered in the last 10 years following advances in exome and genome sequencing that have improved our ability to identify disease-causing variants. Despite these advances, many patients still lack a genetic diagnosis. This demonstrates a need to understand in greater detail the molecular mechanisms and genetics underlying MCPH. Here, we briefly review the molecular functions of each MCPH gene and how their loss disrupts the neurogenesis program, ultimately demonstrating that microcephaly arises from cell cycle dysregulation. We also explore the current issues in the genetic basis and clinical presentation of MCPH as additional avenues of improving gene/variant prioritization. Ultimately, we illustrate that the detailed exploration of the etiology and inheritance of MCPH improves the predictive power in identifying previously unknown MCPH candidates and diagnosing microcephalic patients." @default.
- W3092842165 created "2020-10-22" @default.
- W3092842165 creator A5019131091 @default.
- W3092842165 creator A5025713305 @default.
- W3092842165 creator A5031400901 @default.
- W3092842165 date "2020-10-15" @default.
- W3092842165 modified "2023-10-17" @default.
- W3092842165 title "Dissecting the Genetic and Etiological Causes of Primary Microcephaly" @default.
- W3092842165 cites W1519509571 @default.
- W3092842165 cites W1529015533 @default.
- W3092842165 cites W1540773722 @default.
- W3092842165 cites W1559406855 @default.
- W3092842165 cites W1562967551 @default.
- W3092842165 cites W1565002540 @default.
- W3092842165 cites W1594924680 @default.
- W3092842165 cites W1638194466 @default.
- W3092842165 cites W1665753162 @default.
- W3092842165 cites W1928317628 @default.
- W3092842165 cites W1932900925 @default.
- W3092842165 cites W1963721371 @default.
- W3092842165 cites W1963981052 @default.
- W3092842165 cites W1966203663 @default.
- W3092842165 cites W1966571922 @default.
- W3092842165 cites W1967696278 @default.
- W3092842165 cites W1969517029 @default.
- W3092842165 cites W1973756205 @default.
- W3092842165 cites W1974559008 @default.
- W3092842165 cites W1976311440 @default.
- W3092842165 cites W1977560942 @default.
- W3092842165 cites W1985129470 @default.
- W3092842165 cites W1985223555 @default.
- W3092842165 cites W1988156733 @default.
- W3092842165 cites W1991030270 @default.
- W3092842165 cites W1998454877 @default.
- W3092842165 cites W1999170901 @default.
- W3092842165 cites W1999353962 @default.
- W3092842165 cites W1999970417 @default.
- W3092842165 cites W2000144593 @default.
- W3092842165 cites W2002287374 @default.
- W3092842165 cites W2002476865 @default.
- W3092842165 cites W2004140454 @default.
- W3092842165 cites W2004324663 @default.
- W3092842165 cites W2004906449 @default.
- W3092842165 cites W2006980881 @default.
- W3092842165 cites W2007991122 @default.
- W3092842165 cites W2009017737 @default.
- W3092842165 cites W2015964634 @default.
- W3092842165 cites W2018286352 @default.
- W3092842165 cites W2020415027 @default.
- W3092842165 cites W2021002630 @default.
- W3092842165 cites W2021515035 @default.
- W3092842165 cites W2025843782 @default.
- W3092842165 cites W2028617035 @default.
- W3092842165 cites W2028974766 @default.
- W3092842165 cites W2030242816 @default.
- W3092842165 cites W2034070908 @default.
- W3092842165 cites W2036162361 @default.
- W3092842165 cites W2037704377 @default.
- W3092842165 cites W2040710034 @default.
- W3092842165 cites W2045767540 @default.
- W3092842165 cites W2045878298 @default.
- W3092842165 cites W2049088140 @default.
- W3092842165 cites W2057193274 @default.
- W3092842165 cites W2058145723 @default.
- W3092842165 cites W2061445259 @default.
- W3092842165 cites W2062851506 @default.
- W3092842165 cites W2067517990 @default.
- W3092842165 cites W2068536052 @default.
- W3092842165 cites W2071681982 @default.
- W3092842165 cites W2071828654 @default.
- W3092842165 cites W2073027044 @default.
- W3092842165 cites W2073416603 @default.
- W3092842165 cites W2076588296 @default.
- W3092842165 cites W2076659391 @default.
- W3092842165 cites W2076994569 @default.
- W3092842165 cites W2077090337 @default.
- W3092842165 cites W2078173575 @default.
- W3092842165 cites W2090174025 @default.
- W3092842165 cites W2092474731 @default.
- W3092842165 cites W2092928404 @default.
- W3092842165 cites W2094074562 @default.
- W3092842165 cites W2095435423 @default.
- W3092842165 cites W2096220958 @default.
- W3092842165 cites W2098444562 @default.
- W3092842165 cites W2100469122 @default.
- W3092842165 cites W2102969712 @default.
- W3092842165 cites W2103030751 @default.
- W3092842165 cites W2103166169 @default.
- W3092842165 cites W2103279053 @default.
- W3092842165 cites W2104484136 @default.
- W3092842165 cites W2107889883 @default.
- W3092842165 cites W2109347073 @default.
- W3092842165 cites W2112608400 @default.
- W3092842165 cites W2112853964 @default.
- W3092842165 cites W2114460232 @default.
- W3092842165 cites W2115123726 @default.
- W3092842165 cites W2118286472 @default.
- W3092842165 cites W2120678660 @default.
- W3092842165 cites W2123453264 @default.
- W3092842165 cites W2123515098 @default.