Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant

Halas, Agnieszka; Fijak-Moskal, Jolanta; Kuberska, Renata; Pienkowski, Victor Murcia; Kaniak-Golik, Aneta; Pollak, Agnieszka; Poznański, Jarosław; Rydzanicz, Małgorzata; Bik-Multanowski, Mirosław; Sledziewska-Gojska, Ewa; Płoski, Rafał

doi:10.1007/s00109-020-02033-3

Cited by 4 publications

(2 citation statements)

References 49 publications

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“…Notably, the influence of REV3L extends beyond MBS. Another study investigating chromosomal imbalances in Poland Syndrome (PS) patients highlighted REV3L's association with this condition [33] . PS, which usually presents with pectoralis muscle agenesis and upper limb malformation -a feature also observed in MBS -revealed that REV3L might act as a PS risk factor.…”

Section: Rev3l: a Key Contender In Mbs Pathogenesismentioning

confidence: 99%

Towards an understanding of the aetiology, genomic landscape and management of Moebius syndrome

Lyulcheva-Bennett,

Blumenow,

O’Connor

et al. 2023

J Transl Genet Genom

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Moebius Syndrome (MBS) is a rare neurodevelopmental disorder characterised by facial paralysis and ocular motility defects. Its origins trace back to the 19th century, with its clinical delineation attributed to German neurologist Paul Möbius. The syndrome presents with a spectrum of variable systemic clinical features, necessitating a multidisciplinary approach to diagnosis and management. The prevalence of MBS has been estimated to range between 1 in 50,000 to 1 in 500,000 individuals, with a universal distribution across ethnicities and genders. The aetiology of MBS is poorly understood but is likely multifactorial, with developmental, genetic, and environmental factors playing roles. Recent research has identified potential genetic contributors, REV3L and PLXND1, but further work is needed to elucidate the genetic landscape of this rare neurodevelopmental disorder. Here we describe the current understanding of the clinical features, aetiology, genetic landscape, and management of MBS, emphasising the importance of early diagnosis and a holistic approach to patient care. We also propose a set of criteria aimed at standardising MBS reporting to enhance information sharing and bolster MBS research initiatives. Collaborative research efforts in the future hold the potential to offer transformative insights and improved outcomes for affected individuals and their families.

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Section: Rev3l: a Key Contender In Mbs Pathogenesismentioning

confidence: 99%

Towards an understanding of the aetiology, genomic landscape and management of Moebius syndrome

Lyulcheva-Bennett,

Blumenow,

O’Connor

et al. 2023

J Transl Genet Genom

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“…The method used in our work considers the phenotypes of colonies that originated from single cells, thus exclud-ing the weakness of long-term experiments discussed in the introduction. The few non-mutable colonies which turned out to be haploids might have appeared due to duplication of the CAN1 locus or mutation in the genes encoding for the mutasome components (Halas et al, 2021). Thus, though the suggested method looks robust enough for rapid routine analysis of ploidy, it should be used in combination with FC when high accuracy of polyploid identification is needed.…”

Section: Geneticsmentioning

confidence: 99%

Rate of spontaneous polyploidization in haploid yeast <em>Saccharomyces cerevisiae</em>

Andreychuk

Zhuk

Tarakhovskaya

et al. 2022

BioComm

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Polyploidization is involved in a variety of biological processes. It is one of the principal mechanisms of new species formation since it provides material for gene diversification and subsequent selection. Multiple cases of polyploidization were registered in different branches of the evolutionary tree of eukaryotes. Besides its role in evolution, polyploidization affects gene expression in living cells: pathological genome duplications often happen in cancer cells. The mechanisms and consequences of polyploidization are being studied extensively. However, quantitative determination of the polyploidization rate is challenging due to its low frequency and the absence of selective genetic markers that would phenotypically distinguish between haploids and polyploids. Our work describes a robust and straightforward method for discriminating haploid and polyploid states in the yeast Saccharomyces cerevisiae, a model organism for studying different aspects of polyploidization. The measurement of polyploidization rate showed that in yeast cells this process is mainly caused by autodiploidization rather than mating-type switching followed by hybridization.

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Variant pathogenicity prediction based on the ESGMM algorithm

Liu,

Zhang,

Liu

et al. 2024

Discov Computing

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Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant

Cited by 4 publications

References 49 publications

Towards an understanding of the aetiology, genomic landscape and management of Moebius syndrome

Towards an understanding of the aetiology, genomic landscape and management of Moebius syndrome

Rate of spontaneous polyploidization in haploid yeast <em>Saccharomyces cerevisiae</em>

Variant pathogenicity prediction based on the ESGMM algorithm

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