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

Cauley, Edmund S. ; Hamed, Ahlam ; Mohamed, Inaam N. ; Elseed, Maha ; Martinez, Samantha ; Yahia, Ashraf LU orcid ; Abozar, Fatima ; Abubakr, Rayan ; Koko, Mahmoud and Elsayed, Liena , et al. (2019) In Neurogenetics 20(2). p.91-98
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... (More)

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.

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publishing date
type
Contribution to journal
publication status
published
keywords
Hydrocephalus, Joubert syndrome, Lissencephaly, Polymicrogyria
in
Neurogenetics
volume
20
issue
2
pages
91 - 98
publisher
Springer Science and Business Media B.V.
external identifiers
  • pmid:30982090
  • scopus:85064510750
ISSN
1364-6745
DOI
10.1007/s10048-019-00577-2
language
English
LU publication?
no
additional info
Publisher Copyright: © 2019, Springer-Verlag GmbH Germany, part of Springer Nature.
id
4d60e915-0f42-4053-b630-a6520753d92a
date added to LUP
2026-06-05 10:42:10
date last changed
2026-06-05 11:44:02
@article{4d60e915-0f42-4053-b630-a6520753d92a,
  abstract     = {{<p>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.</p>}},
  author       = {{Cauley, Edmund S. and Hamed, Ahlam and Mohamed, Inaam N. and Elseed, Maha and Martinez, Samantha and Yahia, Ashraf and Abozar, Fatima and Abubakr, Rayan and Koko, Mahmoud and Elsayed, Liena and Piao, Xianhua and Salih, Mustafa A. and Manzini, M. Chiara}},
  issn         = {{1364-6745}},
  keywords     = {{Hydrocephalus; Joubert syndrome; Lissencephaly; Polymicrogyria}},
  language     = {{eng}},
  month        = {{05}},
  number       = {{2}},
  pages        = {{91--98}},
  publisher    = {{Springer Science and Business Media B.V.}},
  series       = {{Neurogenetics}},
  title        = {{Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556}},
  url          = {{http://dx.doi.org/10.1007/s10048-019-00577-2}},
  doi          = {{10.1007/s10048-019-00577-2}},
  volume       = {{20}},
  year         = {{2019}},
}