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Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

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dc.contributor.author Cauley, Edmund S
dc.contributor.author Hamed, Ahlam
dc.contributor.author Mohamed, Inaam N.
dc.contributor.author Elseed, Maha
dc.contributor.author Martinez, Samantha
dc.contributor.author Yahia, Ashraf
dc.contributor.author Abozar, Fatima
dc.contributor.author Abubakr, Rayan
dc.contributor.author Koko, Mahmoud
dc.contributor.author Elsayed, Liena
dc.contributor.author Piao, Xianhua
dc.contributor.author Salih, Mustafa A.
dc.contributor.author Manzini, M Chiara
dc.date.accessioned 2021-08-04T07:06:16Z
dc.date.available 2021-08-04T07:06:16Z
dc.date.issued 2019
dc.identifier.uri http://repo.nusu.edu.sd/xmlui/handle/123456789/36
dc.description.abstract Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present a family affected by a severe brain malformation including bilateral polymicrogyria, hydrocephalus, patchy white matter signal changes, and cerebellar and pontine hypoplasia with elongated cerebellar peduncles leading to the molar tooth sign. While the malformation is reminiscent of bilateral frontoparietal polymicrogyria (BFPP), the phenotype is more severe than previously reported and also includes features of Joubert syndrome (JBTS). Via exome sequencing, we identified homozygous truncating mutations in both ADGRG1/GPR56 and KIAA0556, which are known to cause BFPP and mild brain-specific JBTS, respectively. This study shows how two independent mutations can interact leading to complex brain malformations. en_US
dc.language.iso en en_US
dc.publisher Neurogenetics en_US
dc.subject Hydrocephalus en_US
dc.subject Joubert syndrome en_US
dc.subject Lissencephaly en_US
dc.subject Polymicrogyria. en_US
dc.title Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 en_US
dc.type Article en_US


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