Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; Coe, Bradley P.; Gillentine, Madelyn A.; Wilfert, Amy B.; Pérez-Jurado, Luís A.; Kvarnung, Malin; Sleyp, Yoeri; Earl, Rachel K.; Rosenfeld, Jill A.; Geisheker, Madeleine R.; Lin, Han; Du, Bing; Barnett, Chris; Thompson, E. A.; Shaw, Marie; Carroll, Renée; Friend, Kathryn; Catford, Rachael; Palmer, Elizabeth E.; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Wedell, Anna; Nordgren, Ann; Anderlid, Britt‐Marie; Vandeweyer, Geert; Dijck, Anke Van; Aa, Nathalie Van der; McKenna, Brooke G.; Hančárová, Miroslava; Bendová, Šárka; Havlovičová, Markéta; Malerba, Giovanni; Bernardina, Bernardo Dalla; Muglia, Pierandrea; Haeringen, Arie van; Hoffer, Mariëtte J.V.; Franke, Barbara; Cappuccio, Gerarda; Delatycki, Martin B.; Lockhart, Paul J.; Manning, Melanie A.; Liu, Pengfei; Scheffer, Ingrid E.; Brunetti‐Pierri, Nicola; Rommelse, Nanda; Amaral, David G.; Santen, Gijs W.E.; Trabetti, Elisabetta; Sedláček, Zdeněk; Michaelson, Jacob J.; Pierce, Karen; Courchesne, Eric; Kooy, R. Frank; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael; Gécz, Jozef; Xia, Kun; Eichler, Evan E.

doi:10.1038/s41467-020-19289-5

Cited by 8 publications

(8 citation statements)

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“…The transcription factor, myelin transcription factor 1 like (Myt1l), has been implicated in brain disorders including ASD, intellectual disability (ID), and schizophrenia; its gene deletion is more frequently associated with ASD and ID, whereas its gene duplication is associated with schizophrenia (Al Tuwaijri and Alfadhel, 2019;Blanchet et al, 2017;Bonaglia et al, 2014;Carvalho et al, 2021;Coursimault et al, 2022;D'Angelo et al, 2018;de Ligt et al, 2012;De Rocker et al, 2015;De Rubeis et al, 2014;Doco-Fenzy et al, 2014;Iossifov et al, 2014;Loid et al, 2018;Mayo et al, 2015;Meyer et al, 2012;Rio et al, 2013;Satterstrom et al, 2020;Stevens et al, 2011;Tu et al, 2014;Vlaskamp et al, 2017;Wang et al, 2016;Wang et al, 2020;Windheuser et al, 2020) (reviewed in Coe et al, 2019;Mansfield et al, 2020). Myt1l strongly drives the direct conversion of fibroblasts to neurons (Lujan et al, 2012;Marro et al, 2011;Pang et al, 2011;Pfisterer et al, 2011;Son et al, 2011;Torper et al, 2013;Vierbuchen et al, 2010;Xu et al, 2015) and promotes neuronal differentiation by repressing somatic lineage programs, but not the neuronal lineage program (Blanchet et al, 2017;Kepa et al, 2017;Kim et al, 1997;…”

Section: Introductionmentioning

confidence: 99%

Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice

Kim

Choi

et al. 2022

Cell Reports

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Section: Introductionmentioning

confidence: 99%

Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice

Kim

Choi

et al. 2022

Cell Reports

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“…Apart from distinct facial dysmorphism, both syndromes share a neurodevelopmental phenotype. CUL3 mutations cause neurodevelopmental 77 and autism spectrum disorder 50 . SNAP29 is genetically associated with Cednik syndrome including neuropathy 107 , and schizophrenia 108 .…”

Section: Discussionmentioning

confidence: 99%

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Ben‐Mahmoud

Kishikawa

Gupta

et al. 2023

Preprint

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In an apparently balanced translocation t(7;12)(q22;q24)dn exhibiting both Kallmann syndrome (KS) and intellectual disability (ID), we detected a cryptic heterozygous 4.7 Mb del(12)(p11.21p11.23) unrelated to the translocation breakpoint. This new finding raised the possibility that KS combined with neurological disorder in this patient could be caused by gene(s) within this deletion at 12p11.21-12p11.23 instead of disrupted or dysregulated genes at the genomic breakpoints. Screening of five candidate genes at both breakpoints in 48 KS patients we recruited found no mutation, corroborating our supposition. To substantiate this hypothesis further, we recruited six additional subjects with small CNVs and analyzed eight individuals carrying small CNVs in this region from DECIPHER to dissect 12p11.21-12p11.23. We used multiple complementary approaches including a phenotypic-genotypic comparison of reported cases, a review of knockout animal models recapitulating the human phenotypes, and analyses of reported variants in the interacting genes with corresponding phenotypes. The results identified one potential KS candidate gene (TSPAN11), seven candidate genes for the neurodevelopmental disorder (TM7SF3, STK38L, ARNTL2, ERGIC2, TMTC1, DENND5B, and ETFBKMT), and four candidate genes for KS with ID (INTS13, REP15, PPFIBP1, and FAR2). The high-level expression pattern in the relevant human tissues further suggested the candidacy of these genes. We propose that the dosage alterations of the candidate genes may contribute to sexual and/or cognitive impairment in patients with KS and/or ID. Further identification of point mutations through next generation sequencing will be necessary to confirm their causal roles.

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“…KRAS (Martin et al, 2017): Noonan syndrome (Schubbert et al, 2006;Zenker et al, 2007;Leventopoulos et al, 2010;Turro et al, 2020;Ando et al, 2021), intellectual disability and multiple congenital abnormalities (Vergult et al, 2014) Huttlin et al, 2021): autism (Turner et al, 2019) 2. DDX58 (Wu et al, 2020): autism spectrum disorder (Iossifov et al, 2014;Lim et al, 2017), autism (Turner et al, 2019) 3. ADAM15 (Huttlin et al, 2021): autism spectrum disorder (Lim et al, 2017) 4.…”

Section: Introductionmentioning

confidence: 99%

“…RARA (Li et al, 2007): autism spectrum disorder (Iossifov et al, 2014) 4. AHDC1 (Marcon et al, 2014): syndromic expressive language delay, hypotonia & sleep apnoea (Xia et al, 2014), Xia-Gibbs syndrome (Garcia-Acero and Acosta, 2017; Jiang et al, 2018;Wang et al, 2020;Faergeman et al, 2021), neurodevelopmental disorder (Wang et al, 2020), intellectual disability and developmental delay (Yang et al, 2015;Pekeles et al, 2019), autism spectrum disorder (Iossifov et al, 2014;Kosmicki et al, 2017;Lim et al, 2017), moderate intellectual disability, speech delay, macrocephaly, facial dysmorphism, cleft palate, hypertelorism & macrocrania (Bowling et al, 2017;Jiang et al, 2018) 5. PQBP1 (Stelzl et al, 2005): mental retardation (Kalscheuer et al, 2003;Lenski et al, 2004;Jensen et al, 2011;Rahman et al, 2019), intellectual disability (Redin et al, 2014;Grozeva et al, 2015;Hu et al, 2016;Abdel-Salam et al, 2018), microcephaly (Shaheen et al, 2019) 6.…”

Section: Introductionmentioning

confidence: 99%

“…AHDC1 ( Marcon et al, 2014 ): syndromic expressive language delay, hypotonia & sleep apnoea ( Xia et al, 2014 ), Xia-Gibbs syndrome ( Garcia-Acero and Acosta, 2017 ; Jiang et al, 2018 ; Wang et al, 2020 ; Faergeman et al, 2021 ), neurodevelopmental disorder ( Wang et al, 2020 ), intellectual disability and developmental delay ( Yang et al, 2015 ; Pekeles et al, 2019 ), autism spectrum disorder ( Iossifov et al, 2014 ; Kosmicki et al, 2017 ; Lim et al, 2017 ), moderate intellectual disability, speech delay, macrocephaly, facial dysmorphism, cleft palate, hypertelorism & macrocrania ( Bowling et al, 2017 ; Jiang et al, 2018 )…”

Section: Introductionmentioning

confidence: 99%

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A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

Ben‐Mahmoud

Jun²,

Gupta³

et al. 2022

Front. Mol. Neurosci.

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Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. These small unbalanced chromosomal structural rearrangements ranging from 1 kb to 10 Mb comprise up to 15% of human mutations leading to monogenic or contiguous genomic disorders. Albeit rare, CNVs at 1p13.3 cause a variety of neurodevelopmental disorders (NDDs) including development delay (DD), intellectual disability (ID), autism, epilepsy, and craniofacial anomalies (CFA). Most of the 1p13.3 CNV cases reported in the pre-microarray era encompassed a large number of genes and lacked the demarcating genomic coordinates, hampering the discovery of positional candidate genes within the boundaries. In this study, we present four subjects with 1p13.3 microdeletions displaying DD, ID, autism, epilepsy, and CFA. In silico comparative genomic mapping with three previously reported subjects with CNVs and 22 unreported DECIPHER CNV cases has resulted in the identification of four different sub-genomic loci harboring five positional candidate genes for DD, ID, and CFA at 1p13.3. Most of these genes have pathogenic variants reported, and their interacting genes are involved in NDDs. RT-qPCR in various human tissues revealed a high expression pattern in the brain and fetal brain, supporting their functional roles in NDDs. Interrogation of variant databases and interacting protein partners led to the identification of another set of 11 potential candidate genes, which might have been dysregulated by the position effect of these CNVs at 1p13.3. Our studies define 1p13.3 as a genomic region harboring 16 NDD candidate genes and underscore the critical roles of small CNVs in in silico comparative genomic mapping for disease gene discovery. Our candidate genes will help accelerate the isolation of pathogenic heterozygous variants from exome/genome sequencing (ES/GS) databases.

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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Cited by 8 publications

References 0 publications

Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice

Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

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