Autosomal insertional translocation mimicking an X-linked mode of inheritance

Thierry, Gaëlle; Pichon, Olivier; Briand, Annaig; Poulain, Damien; Sznajer, Yves; David, Albert; Caignec, Cédric Le

doi:10.1016/j.ejmg.2012.10.006

Cited by 4 publications

(4 citation statements)

References 17 publications

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“…Common segmental aneusomies result from deletion, duplication, triplication, terminal translocation, and insertional translocation [Kang et al, ; Assawamakin et al, ; Thierry et al, ]. Our patient showed segmental trisomy of 11q23.3‐q25 with no copy number changes in another chromosome.…”

Section: Discussionmentioning

confidence: 61%

“…Based on a literature review, the majority of cases with unbalanced translocation are result from a balanced translocation present in a phenotypically normal parent [Thierry et al, ]. In the present case, the patient inherited the trisomy from a maternal mosaic unbalanced terminal translocation, der(22) t(11;22)(q23.3;q13.3), with the mosaic trisomy 22.7% of 11q23.3‐q25.…”

Section: Discussionmentioning

confidence: 78%

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Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

Choi

Lee

2015

American J of Med Genetics Pt A

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Partial trisomy of 11q is characterized by pre/postnatal growth retardation, microcephaly, dysmorphic craniofacial features, cognitive disability, abnormal muscle tone, inguinal hernia, and possible congenital heart defects. Here, we describe a 17-year-old male with a 17.77 Mb-sized [arr 11q23.3-q25 (116,667,559 -134,434,130) ×3] partial trisomy resulting from the unbalanced translocation between chromosomes 11 and 22. The terminal translocation was detected using oligonucleotide array comparative genomic hybridization (CGH) with fluorescence in situ hybridization (FISH) confirmation. The partial trisomy was inherited from his mother who had the low-level (22.7%) mosaic unbalanced translocation and a normal phenotype. The patient showed most of the common features of partial trisomy 11q syndrome, with additional findings, including mesenteric fibromatosis.

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Section: Discussionmentioning

confidence: 61%

Section: Discussionmentioning

confidence: 78%

Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

Choi

Lee

2015

American J of Med Genetics Pt A

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“…Interestingly, in TOF and CDH patients, behavioral and/or neurological phenotypes are commonly reported (Piran et al, 2011). Hand sterotypies, delayed or no speech acquisition, seizures, and mild to severe intellectual disability have been reported in patients with deletions involving Fog2 (Thierry et al, 2013; Wat et al, 2011). Whether Fog2 variation might contribute to some human intellectual disabilities will be of substantial interest to investigate further.…”

Section: Discussionmentioning

confidence: 99%

Corticothalamic Projection Neuron Development beyond Subtype Specification: Fog2 and Intersectional Controls Regulate Intraclass Neuronal Diversity

Galazo

Emsley

Macklis

2016

Neuron

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Summary Corticothalamic projection neurons (CThPN) are a diverse set of neurons, critical for function of the neocortex. CThPN development and diversity needs to be precisely regulated, but little is known about molecular controls over their differentiation and functional specialization, critically limiting understanding of cortical development and complexity. We report the identification of a set of genes that both define CThPN, and likely control their differentiation, diversity, and function. We selected the CThPN-specific transcriptional co-regulator Fog2 for functional analysis. We identify that Fog2 controls CThPN molecular differentiation, axonal targeting, and diversity, in part by regulating the expression level of Ctip2 by CThPN, via combinatorial interactions with other molecular controls. Loss of Fog2 specifically disrupts differentiation of subsets of CThPN specialized in motor function, indicating that Fog2 coordinates subtype and functional- area differentiation. These results confirm that we identified key controls over CThPN development, and identify Fog2 as a critical control over CThPN diversity.

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“…In humans, FOG2 mutations have been recognized primarily in congenital heart disease, but neurological and behavioral abnormalities have also been observed. Patients with a FOG2 deletion exhibit delayed or impaired speech ability, intellectual disability and seizures [153,154]. Based on the above information, it is postulated that FOG2 could be a crucial factor during the assembly of neural circuits and the acquisition of identities in postmitotic neurons.…”

Section: The Function Of Fog1 and Fog2 In Neuronal Cellsmentioning

confidence: 99%

Emerging Roles of PRDM Factors in Stem Cells and Neuronal System: Cofactor Dependent Regulation of PRDM3/16 and FOG1/2 (Novel PRDM Factors)

Leszczyński

Śmiech

Parvanov

et al. 2020

Cells

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PRDI-BF1 (positive regulatory domain I-binding factor 1) and RIZ1 (retinoblastoma protein-interacting zinc finger gene 1) (PR) homologous domain containing (PRDM) transcription factors are expressed in neuronal and stem cell systems, and they exert multiple functions in a spatiotemporal manner. Therefore, it is believed that PRDM factors cooperate with a number of protein partners to regulate a critical set of genes required for maintenance of stem cell self-renewal and differentiation through genetic and epigenetic mechanisms. In this review, we summarize recent findings about the expression of PRDM factors and function in stem cell and neuronal systems with a focus on cofactor-dependent regulation of PRDM3/16 and FOG1/2. We put special attention on summarizing the effects of the PRDM proteins interaction with chromatin modulators (NuRD complex and CtBPs) on the stem cell characteristic and neuronal differentiation. Although PRDM factors are known to possess intrinsic enzyme activity, our literature analysis suggests that cofactor-dependent regulation of PRDM3/16 and FOG1/2 is also one of the important mechanisms to orchestrate bidirectional target gene regulation. Therefore, determining stem cell and neuronal-specific cofactors will help better understanding of PRDM3/16 and FOG1/2-controlled stem cell maintenance and neuronal differentiation. Finally, we discuss the clinical aspect of these PRDM factors in different diseases including cancer. Overall, this review will help further sharpen our knowledge of the function of the PRDM3/16 and FOG1/2 with hopes to open new research fields related to these factors in stem cell biology and neuroscience.

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Autosomal insertional translocation mimicking an X-linked mode of inheritance

Cited by 4 publications

References 17 publications

Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

Corticothalamic Projection Neuron Development beyond Subtype Specification: Fog2 and Intersectional Controls Regulate Intraclass Neuronal Diversity

Emerging Roles of PRDM Factors in Stem Cells and Neuronal System: Cofactor Dependent Regulation of PRDM3/16 and FOG1/2 (Novel PRDM Factors)

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