Gonadal mosaicism and non‐invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders

Goriely, Anne

doi:10.1002/pd.5108

Cited by 19 publications

(14 citation statements)

References 25 publications

(35 reference statements)

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“…ATAD3, A Hotspot for Genomic Variation and Pathogenic CNVs Pediatric mitochondrial disease, including lethal perinatal presentations, is most often thought to have autosomal recessive inheritance. 1 The de novo nature of ATAD3 duplications markedly alters the reproductive landscape for families, with the recurrence risk estimated to be 1%-4% for gonadal mosaicism, 46 rather than 25%. The identification of these recurrent pathogenic duplications and other ATAD3 variants is also shifting the genomic landscape of mitochondrial diagnostics.…”

Section: Discussionmentioning

confidence: 99%

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Frazier

Compton

Kishita

et al. 2021

Med

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et al. describe 17 patients with recurrent de novo ATAD3 duplications resulting in stably expressed chimeric ATAD3A/ATAD3C proteins and altered ATAD3 oligomerization. Affected individuals share striking clinical similarities featuring cardiomyopathy, perinatal death, and cardiac complex I deficiency, with ATAD3 emerging as a hotspot for pathogenic genomic variation leading to mitochondrial disease.

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Section: Discussionmentioning

confidence: 99%

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Frazier

Compton

Kishita

et al. 2021

Med

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“…Direct methods to identify the source of the originating mutations within individual seminiferous tubules of testes (removed because of incidental pathology) were recently described [55, 56], providing further support for the proposed pathophysiological mechanism. The clinical significance of this knowledge is that sibling recurrence risk for de novo FGFR2 and FGFR3 mutations is likely to be exceptionally low, making it justified to reassure parents and mitigate demand for prenatal diagnosis [57]. …”

Section: Genetic Counselling In Craniosynsotosismentioning

confidence: 99%

Clinical genetics of craniosynostosis

Wilkie

Johnson²,

Wall³

2017

Current Opinion in Pediatrics

153

169

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Purpose of review When providing accurate clinical diagnosis and genetic counselling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between. This review will scope out how recent genetic discoveries from next-generation sequencing have impacted on the clinical genetic evaluation of craniosynostosis. Recent findings Survey of a 13-year birth cohort of patients treated at a single craniofacial unit demonstrates that a genetic cause of craniosynostosis can be identified in one quarter of cases. The substantial contributions of mutations in two genes, TCF12 and ERF, is confirmed. Important recent discoveries are mutations of CDC45 and SMO in specific craniosynostosis syndromes, and of SMAD6 in non-syndromic midline synostosis. The added value of exome or whole genome sequencing in the diagnosis of difficult cases is highlighted. Summary Strategies to optimise clinical genetic diagnostic pathways by combining both targeted and next-generation sequencing are discussed. As well as improved genetic counselling, recent discoveries spotlight the important roles of signalling through the bone morphogenetic protein and hedgehog pathways in cranial suture biogenesis, as well as a key requirement for adequate cell division in suture maintenance.

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“…90 The unprecedented commercial drive to implement NIPT for aneuploidy over the past decade has meant that we have learnt a lot about cell-free fetal DNA. It has clearly changed the face of prenatal diagnosis and no doubt will continue to pose ethical challenges 93 as our understanding improves and its potential scope broadens. We must hope that the high standards of validation that are required in public sector laboratories can be applied to the commercial sector, which has been key in driving progress, and that we can hasten slowly and with care to avoid harm as new tests are developed.…”

Section: A Decade Of Cell-free Dna Testingmentioning

confidence: 99%

Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery

et al. 2020

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Gonadal mosaicism and non‐invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders

Cited by 19 publications

References 25 publications

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Clinical genetics of craniosynostosis

Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery

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