3p Interstitial Deletion Including PRICKLE2 in Identical Twins With Autistic Features

Okumura, Akihisa; Yamamoto, Toshiyuki; Miyajima, Masakazu; Shimojima, Keiko; Kondo, Satoshi; Abe, Shinpei; Ikeno, Mitsuru; Shimizu, Toshiaki

doi:10.1016/j.pediatrneurol.2014.07.025

Cited by 17 publications

(22 citation statements)

References 10 publications

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“…Interstitial 3p deletions have been very rarely reported and the phenotype-genotype correlation is not well understood. Previous reports have documented a chromosome 3p14 deletion in several patients with global developmental delay, intellectual disability, language impairment and autistic features, but without any other major malformations and only mild facial dysmorphism [34][35][36][37]. The region deleted in our patients includes 78 genes of those FEZF2, CADPS, SYNPR, ATXN7, PRICKLE, and MAGI1, are known or presumed to have a role in neurodevelopment.…”

Section: Discussionsupporting

confidence: 48%

A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families

Mucciolo¹,

Marco²,

Canitano³

et al. 2016

J Genet Syndr Gene Ther

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Background: Autism Spectrum Disorders (ASD) and Intellectual Disability (ID) represent lifelong conditions with severe impact on behavior and lifestyle of patients and their families. Array comparative genomic hybridization (array-CGH) has clarified the underlying genetic causes of ASD and ID by CNVs identification in several chromosomal regions with susceptibility to different levels of severity of ASD or ID in up to 1% of patients. Methods:Using oligo array-CGH we analyzed 476 unrelated subjects with ASD or ID, thoroughly investigated by both child neuropsychiatrists and clinical geneticists. The inheritance of the CNV was tested in the majority of cases (82% of positive cases).Results: A total of 198 rearrangements were identified in 154 cases. CNVs were classified in three groups: i-CNVs previously known to be associated with ASD or ID (28/198, 14%), including 16p11.2, 15q13.3, 17p12 and 17q12; ii-CNVs including genes known to be associated with either ASD or ID (9/198, 4.5%); iii-CNVs of unknown significance (161/198, 81.3%). Conclusion:Our study confirmed that array-CGH analysis is able to detect the underlying genetic cause in about 18% of ASD or ID patients, highlighting it as an essential diagnostic tool for patient's assessment. Overall, a prevalence of duplications with respect to deletions was observed (62% and 38%, respectively) but among the deleted cases an enrichment of microdeletions in ASD cases (p=0.03) is present. Furthermore, we shown a prevalence of multiple CNVs in ASD cases compared to ID (p=0.05), pointing out the complex nature of ASD.

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Section: Discussionsupporting

confidence: 48%

A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families

Mucciolo¹,

Marco²,

Canitano³

et al. 2016

J Genet Syndr Gene Ther

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“…Haploinsufficiency of the 2 genes in the suspected critical zone [de La Hoz et al, 2015], alone or in conjunction with the partial loss of PTPRG , whose function is considered important for neurodevelopment, should be sufficient to result in the following characteristics of the 3p-deletion phenotype: developmental delay, ID, mild facial dysmorphisms, and language impairment. Our patient has no autistic features or epilepsy because these disorders could be due to the additional loss of other genes, such as PRICKLE2 and MAGI1 [Okumura et al, 2014].…”

Section: Discussionmentioning

confidence: 88%

“…ac.uk/) [Tao et al, 2011;Schwaibold et al, 2013;Okumura et al, 2014;de la Hoz et al, 2015] ( Table 1 ).…”

Section: Discussionunclassified

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature

Parmeggiani¹,

Buldrini²,

Fini³

et al. 2018

Mol Syndromol

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Interstitial deletions of chromosome 3p are rare, and specific genotype-phenotype correlations cannot always be assessed. We report the case of a 3p14.2 proximal microdeletion in a 60-year-old female patient with mild intellectual disability, severe speech delay, and mild dysmorphism. An array-CGH analysis detected a 500-kb deletion in the 3p14.2 region, including FEZF2, CADPS, and PTPRG. FEZF2 and CADPS are known to network within the neurodevelopmental pathways. It is possible that their rearrangements lead to the phenotypic features observed in the patient, and therefore, they can be considered candidate genes responsible for such abnormalities.

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“…Ultimately, this work provides a foundation for future studies into the role of vertebrate Pk proteins, and thus might help to elucidate the etiology of Pk-associated human pathologies, such as epilepsy, congenital birth defects and, possibly, autism (Okumura et al, 2014;Sowers et al, 2013;Tao et al, 2011;Wen et al, 2010).…”

Section: Discussionmentioning

confidence: 98%

Control of vertebrate core PCP protein localization and dynamics by Prickle2

Butler

Wallingford

2015

Development

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Planar cell polarity (PCP) is a ubiquitous property of animal tissues and is essential for morphogenesis and homeostasis. In most cases, this fundamental property is governed by a deeply conserved set of 'core PCP' proteins, which includes the transmembrane proteins Van Gogh-like (Vangl) and Frizzled (Fzd), as well as the cytoplasmic effectors Prickle (Pk) and Dishevelled (Dvl). Asymmetric localization of these proteins is thought to be central to their function, and understanding the dynamics of these proteins is an important challenge in developmental biology. Among the processes that are organized by the core PCP proteins is the directional beating of cilia, such as those in the vertebrate node, airway and brain. Here, we exploit the live imaging capabilities of Xenopus to chart the progressive asymmetric localization of fluorescent reporters of Dvl1, Pk2 and Vangl1 in a planar polarized ciliated epithelium. Using this system, we also characterize the influence of Pk2 on the asymmetric dynamics of Vangl1 at the cell cortex, and we define regions of Pk2 that control its own localization and those impacting Vangl1. Finally, our data reveal a striking uncoupling of Vangl1 and Dvl1 asymmetry. This study advances our understanding of conserved PCP protein functions and also establishes a rapid, tractable platform to facilitate future in vivo studies of vertebrate PCP protein dynamics.

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3p Interstitial Deletion Including PRICKLE2 in Identical Twins With Autistic Features

Cited by 17 publications

References 10 publications

A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families

A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature

Control of vertebrate core PCP protein localization and dynamics by Prickle2

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