Molecular genetics of human developmental neurocranial anomalies: towards “precision surgery”

Abstract Recent trio-based whole-exome sequencing studies of congenital hydrocephalus and nonsyndromic craniosynostosis have identified multiple novel disease genes that have illuminated the pathogenesis of these disorders and shed new insight into the genetic regulation of human brain and skull dev...

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Bibliographic Details
Published in:Cerebral cortex (New York, N.Y. 1991) N.Y. 1991), 2023-03, Vol.33 (6), p.2912-2918
Main Authors: Duy, Phan Q, Timberlake, Andrew T, Lifton, Richard P, Kahle, Kristopher T
Format: Article
Language:English
Subjects:
Craniosynostoses - genetics
Craniosynostoses - surgery
Forecasting
Humans
Molecular Biology
Original
Skull
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Summary:Abstract Recent trio-based whole-exome sequencing studies of congenital hydrocephalus and nonsyndromic craniosynostosis have identified multiple novel disease genes that have illuminated the pathogenesis of these disorders and shed new insight into the genetic regulation of human brain and skull development. Continued study of these and other historically understudied developmental anomalies has the potential to replace the current antiquated, anatomically based disease classification systems with a molecular nomenclature that may increase precision for genetic counseling, prognostication, and surgical treatment stratification—including when not to operate. Data will also inform future clinical trials, catalyze the development of targeted therapies, and generate infrastructure and publicly available data sets relevant for other related nonsurgical neurodevelopmental and neuropsychiatric diseases.
ISSN:1047-3211
1460-2199
DOI:10.1093/cercor/bhac249