WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts

© 2019, The Author(s) under exclusive licence to The Japan Society of Human Genetics. A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility t...

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Main Authors: Piranit Nik Kantaputra, Yuddhasert Sirirungruangsarn, Pannee Visrutaratna, Sasitorn Petcharunpaisan, Bruce M. Carlson, Worrachet Intachai, Jutamas Sudasna, Jatupol Kampuansai, Prapai Dejkhamron
Format: Journal
Published: 2019
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/63570
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-635702019-03-18T02:24:12Z WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts Piranit Nik Kantaputra Yuddhasert Sirirungruangsarn Pannee Visrutaratna Sasitorn Petcharunpaisan Bruce M. Carlson Worrachet Intachai Jutamas Sudasna Jatupol Kampuansai Prapai Dejkhamron Biochemistry, Genetics and Molecular Biology Medicine © 2019, The Author(s) under exclusive licence to The Japan Society of Human Genetics. A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility to fractures. We report an additional case where arachnoid cysts extend the phenotype, and that also confirms the association of intellectual disabilities with asymmetric cerebellar hypoplasia here. Interestingly, if the cerebellum is normal in this disorder, intelligence is as well, analogous to an association with similar delays in a subset of patients with sporadic unilateral cerebellar hypoplasia. Those cases typically appear to represent vascular disruptions, and we suggest that most brain anomalies in WNT1-associated OI have vascular origins related to a role for WNT1 in CNS angiogenesis. This unusual combination of benign cerebellar findings with effects on higher functions in these two situations raises the possibility that WNT1 is involved in the pathogenesis of the associated sporadic cases as well. Finally, our patient reacted poorly to pamidronate, which appears ineffective with this form of OI, so that a lack of improvement is an indication for molecular testing that includes WNT1. 2019-03-18T02:21:00Z 2019-03-18T02:21:00Z 2019-04-01 Journal 1435232X 14345161 2-s2.0-85060775236 10.1038/s10038-019-0565-9 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85060775236&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/63570
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
Piranit Nik Kantaputra
Yuddhasert Sirirungruangsarn
Pannee Visrutaratna
Sasitorn Petcharunpaisan
Bruce M. Carlson
Worrachet Intachai
Jutamas Sudasna
Jatupol Kampuansai
Prapai Dejkhamron
WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
description © 2019, The Author(s) under exclusive licence to The Japan Society of Human Genetics. A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility to fractures. We report an additional case where arachnoid cysts extend the phenotype, and that also confirms the association of intellectual disabilities with asymmetric cerebellar hypoplasia here. Interestingly, if the cerebellum is normal in this disorder, intelligence is as well, analogous to an association with similar delays in a subset of patients with sporadic unilateral cerebellar hypoplasia. Those cases typically appear to represent vascular disruptions, and we suggest that most brain anomalies in WNT1-associated OI have vascular origins related to a role for WNT1 in CNS angiogenesis. This unusual combination of benign cerebellar findings with effects on higher functions in these two situations raises the possibility that WNT1 is involved in the pathogenesis of the associated sporadic cases as well. Finally, our patient reacted poorly to pamidronate, which appears ineffective with this form of OI, so that a lack of improvement is an indication for molecular testing that includes WNT1.
format Journal
author Piranit Nik Kantaputra
Yuddhasert Sirirungruangsarn
Pannee Visrutaratna
Sasitorn Petcharunpaisan
Bruce M. Carlson
Worrachet Intachai
Jutamas Sudasna
Jatupol Kampuansai
Prapai Dejkhamron
author_facet Piranit Nik Kantaputra
Yuddhasert Sirirungruangsarn
Pannee Visrutaratna
Sasitorn Petcharunpaisan
Bruce M. Carlson
Worrachet Intachai
Jutamas Sudasna
Jatupol Kampuansai
Prapai Dejkhamron
author_sort Piranit Nik Kantaputra
title WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
title_short WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
title_full WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
title_fullStr WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
title_full_unstemmed WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
title_sort wnt1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
publishDate 2019
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85060775236&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/63570
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