TY - JOUR
T1 - Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis
AU - Qureshi, Hanya M.
AU - Mekbib, Kedous Y.
AU - Allington, Garrett
AU - Elsamadicy, Aladine A.
AU - Duy, Phan Q.
AU - Kundishora, Adam J.
AU - Jin, Sheng Chih
AU - Kahle, Kristopher T.
N1 - Publisher Copyright:
© 2022 The Author(s). Published by Oxford University Press. All rights reserved. For permissions, please e-mail: [email protected].
PY - 2023/3/15
Y1 - 2023/3/15
N2 - Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain and present significant challenges for clinical management. While most cases of ACs are sporadic, nearly 40 familial forms have been reported. Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia. These findings suggest that genetic factors contribute to AC pathogenesis. However, traditional linkage and segregation approaches have been limited in their ability to identify causative genes for ACs because the disease is genetically heterogeneous and often presents asymptomatically and sporadically. Here, we comprehensively review theories of AC pathogenesis, the genetic evidence for AC formation, and discuss a different approach to AC genomics that could help elucidate this perplexing lesion and shed light on the associated neurodevelopmental phenotypes seen in a significant subset of these patients.
AB - Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain and present significant challenges for clinical management. While most cases of ACs are sporadic, nearly 40 familial forms have been reported. Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia. These findings suggest that genetic factors contribute to AC pathogenesis. However, traditional linkage and segregation approaches have been limited in their ability to identify causative genes for ACs because the disease is genetically heterogeneous and often presents asymptomatically and sporadically. Here, we comprehensively review theories of AC pathogenesis, the genetic evidence for AC formation, and discuss a different approach to AC genomics that could help elucidate this perplexing lesion and shed light on the associated neurodevelopmental phenotypes seen in a significant subset of these patients.
KW - arachnoid cyst
KW - genomics
KW - multiomics
KW - neurodevelopmental disorders
KW - whole-exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85150396206&partnerID=8YFLogxK
U2 - 10.1093/cercor/bhac257
DO - 10.1093/cercor/bhac257
M3 - Article
C2 - 35851401
AN - SCOPUS:85150396206
SN - 1047-3211
VL - 33
SP - 3012
EP - 3025
JO - Cerebral Cortex
JF - Cerebral Cortex
IS - 6
ER -