Confirmation of 6q21–6q22.1 deletion in Acro‐cardio‐facial syndrome and further delineation of this contiguous gene deletion syndrome

Hudson, Cindy; Schwanke, Corbin; Johnson, John P.; Elias, Abdallah F.; Phillips, Sandy; Schwalbe, Tammy; Tunby, M.; Xu, Dongpo

doi:10.1002/ajmg.a.36548

Cited by 16 publications

(25 citation statements)

References 14 publications

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“…Some authors have examined the shared deleted region among individuals with overlapping phenotypes to try to establish a genotype‐phenotype correlation. For example, Toschi et al and Hudson et al have described the association between 6q21‐q22.3 microdeletions and ACFS (Toschi et al ; Hudson et al ). Interestingly, our case does not exhibit clinical features of ACFS.…”

Section: Discussionmentioning

confidence: 99%

Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome

Milani

Cagnoli

Baccarin

et al. 2016

Congenital Anomalies

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Section: Discussionmentioning

confidence: 99%

Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome

Milani

Cagnoli

Baccarin

et al. 2016

Congenital Anomalies

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“…Other notable interaction signals observed in this study are rs705670 on chromosome 9 for PIQ and rs1276529 on chromosome 6 for VIQ ( (Ripke et al, 2014;Vondervoort et al, 2013;Wapinski & Chang, 2011;Zayats et al, 2015), while RFPL4B gene has been linked to language delay (Szafranski et al, 2015) and neuropsychiatric conditions where IQ is also affected (Hudson et al, 2014;Sun, Cheng, Zhang, & Xu, 2015).…”

mentioning

confidence: 53%

“…The first SNP (rs705670) is an intronic variant within a long non‐protein‐coding RNA (lncRNA) gene, LINC01502 , while rs1276529 is an intergenic SNP located 141,817 bp to RFPL4B (Ret Finger Protein‐Like 4B) gene. lncRNAs have recently been implicated in a number of neuropsychiatric disorders where IQ is affected, such as schizophrenia, fragile X syndrome, and attention‐deficit/hyperactivity disorder (Ripke et al, ; Vondervoort et al, ; Wapinski & Chang, ; Zayats et al, ), while RFPL4B gene has been linked to language delay (Szafranski et al, ) and neuropsychiatric conditions where IQ is also affected (Hudson et al, ; Sun, Cheng, Zhang, & Xu, ).…”

Section: Discussionmentioning

confidence: 99%

Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome‐wide analyses in ALSPAC

et al. 2018

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IntroductionIntelligence is a core construct of individual differences in cognitive abilities and a strong predictor of important life outcomes. Within recent years, rates of cesarean section have substantially increased globally, though little is known about its effect on neurodevelopmental trajectories. Thus, we aimed to investigate the influence of delivery by cesarean section on the genetics of intelligence in children.MethodsParticipants were recruited through the Avon Longitudinal Study of Parents and Children (ALSPAC). Intelligence was measured by the Wechsler Intelligence Scale for Children (WISC). Genotyping was performed using the Illumina Human Hap 550 quad genome‐wide SNP genotyping platform and was followed by imputation using MACH software. Genome‐wide interaction analyses were conducted using linear regression.ResultsA total of 2,421 children and 2,141,747 SNPs were subjected to the genome‐wide interaction analyses. No variant reached genome‐wide significance. The strongest interaction was observed at rs17800861 in the GRIN2A gene (β = −3.43, 95% CI = −4.74 to −2.12, p = 2.98E−07). This variant is predicted to be located within active chromatin compartments in the hippocampus and may influence binding of the NF‐kappaB transcription factor.ConclusionsOur results may indicate that mode of delivery might have a moderating effect on genetic disposition of intelligence in children. Studies of considerable sizes (>10,000) are likely required to more robustly detect variants governing such interaction. In summary, the presented findings prompt the need for further studies aimed at increasing our understanding of effects various modes of delivery may have on health outcomes in children.

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“…HDACs are divided into five classes with class I HDACs (HDAC1, 2, 3, and 8) being structurally similar and having the most intrinsically active enzymatic domains (Brunmeir et al, 2009; Reichert et al, 2012). Hdac1 and Hdac2 have already been implicated in congenital craniofacial defects seen in humans (Hudson et al, 2014; de Souza et al, 2015; Matsumoto et al, 2015), yet no causal link has been drawn. Here we show that Hdac1 and Hdac2 regulate neural crest progenitor cell pluripotency, pharyngeal arch development, and craniofacial morphogenesis during earliest stages of development, which strengthens the association between these critical enzymes and human congenital defects.…”

Section: Discussionmentioning

confidence: 99%

Histone deacetylase 1 and 2 are essential for murine neural crest proliferation, pharyngeal arch development, and craniofacial morphogenesis

Milstone

Lawson

Trivedi

2017

Developmental Dynamics

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Background Craniofacial anomalies involve defective pharyngeal arch development and neural crest function. Copy number variation at 1p35, containing histone deacetylase 1 (Hdac1), or 6q21-22, containing Hdac2, are implicated in patients with craniofacial defects, suggesting an important role in guiding neural crest development. However, the roles of Hdac1 and Hdac2 within neural crest cells remain unknown. Results The neural crest and its derivatives express both Hdac1 and Hdac2 during early murine development. Ablation of Hdac1 and Hdac2 within murine neural crest progenitor cells cause severe hemorrhage, atrophic pharyngeal arches, defective head morphogenesis, and complete embryonic lethality. Embryos lacking Hdac1 and Hdac2 in the neural crest exhibit decreased proliferation and increased apoptosis in both the neural tube and the first pharyngeal arch. Mechanistically, loss of Hdac1 and Hdac2 upregulates cyclin-dependent kinase inhibitors Cdkn1a, Cdkn1b, Cdkn1c, Cdkn2b, Cdkn2c, and Tp53 within the first pharyngeal arch. Conclusions Our results show that Hdac1 and Hdac2 function redundantly within the neural crest to regulate proliferation and the development of the pharyngeal arches via repression of cyclin-dependent kinase inhibitors.

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Confirmation of 6q21–6q22.1 deletion in Acro‐cardio‐facial syndrome and further delineation of this contiguous gene deletion syndrome

Cited by 16 publications

References 14 publications

Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome

Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome

Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome‐wide analyses in ALSPAC

Histone deacetylase 1 and 2 are essential for murine neural crest proliferation, pharyngeal arch development, and craniofacial morphogenesis

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