Patrick Edery
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View article: XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches Open
The non-homologous end joining (NHEJ) pathway is essential to repair DNA double-strand breaks. XRCC4 acts as a stabilizer of the DNA ligase LIG4 in the NHEJ process. In humans, XRCC4 pathogenic variants are responsible for a microcephalic …
View article: Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of <scp><i>CNKSR2</i></scp> in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (<scp>MRXSHG</scp>)
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of <span><i>CNKSR2</i></span> in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (<span>MRXSHG</span>) Open
The Houge type of X‐linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. …
View article: A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids Open
Taybi-Linder syndrome (TALS) is a rare autosomal recessive disorder characterized by severe microcephaly with abnormal gyral pattern, severe growth retardation and bone abnormalities. It is caused by pathogenic variants in the RNU4ATAC gen…
View article: B‐cell immune deficiency in twin sisters expands the phenotype of <scp>MOPDI</scp>
B‐cell immune deficiency in twin sisters expands the phenotype of <span>MOPDI</span> Open
Microcephalic osteodysplastic primordial dwarfism type I (MOPDI) is a very rare and severe autosomal recessive disorder characterized by marked intrauterine growth retardation, skeletal dysplasia, microcephaly and brain malformations. MOPD…
View article: Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes
Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes Open
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View article: A TALS-like<i>RTTN</i>mutation impedes neural rosette formation in human cortical organoids
A TALS-like<i>RTTN</i>mutation impedes neural rosette formation in human cortical organoids Open
The Taybi-Linder syndrome (TALS) is a rare genetic disorder characterized by a severe microcephaly with abnormal gyral pattern, severe growth retardation, bone abnormalities and a reduced life span for the most severe cases. It is caused b…
View article: Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Open
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to h…
View article: Low risk of embryonic and other cancers in <i>PIK3CA</i><scp>‐related</scp> overgrowth spectrum: Impact on screening recommendations
Low risk of embryonic and other cancers in <i>PIK3CA</i><span>‐related</span> overgrowth spectrum: Impact on screening recommendations Open
The PIK3CA ‐related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various cancer types. Some generalized overgrowth syndromes are associa…
View article: Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Open
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to h…
View article: Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting Open
Background With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To hel…
View article: Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish Open
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, RNU4ATAC , has been found mutated in Taybi-Linder (TALS/mic…
View article: Mutations in the non-coding<i>RNU4ATAC</i>gene affect the homeostasis and function of the Integrator complex
Mutations in the non-coding<i>RNU4ATAC</i>gene affect the homeostasis and function of the Integrator complex Open
Various genetic diseases associated with microcephaly and developmental defects are due to pathogenic variants in the U4atac small nuclear RNA (snRNA), a component of the minor spliceosome essential for the removal of U12-type introns from…
View article: Molecular consequences of <i>PQBP1</i> deficiency, involved in the X-linked Renpenning syndrome
Molecular consequences of <i>PQBP1</i> deficiency, involved in the X-linked Renpenning syndrome Open
Mutations in the PQBP1 gene (polyglutamine-binding protein 1) are responsible for a syndromic X-linked form of intellectual disability (XLID), the Renpenning syndrome. PQBP1 encodes a protein that plays a role in the regulation of gene exp…
View article: <i>PIGN</i>encephalopathy: Characterizing the epileptology
<i>PIGN</i>encephalopathy: Characterizing the epileptology Open
Objective Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. Methods We recruited patients with e…
View article: Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects Open
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its non-coding gene, RNU4ATAC , has been found mutated in Taybi-Linder (MOPD1/T…
View article: Clinical and neuroimaging findings in 33 patients with <scp>MCAP</scp> syndrome: A survey to evaluate relevant endpoints for future clinical trials
Clinical and neuroimaging findings in 33 patients with <span>MCAP</span> syndrome: A survey to evaluate relevant endpoints for future clinical trials Open
Megalencephaly‐CApillary malformation‐Polymicrogyria (MCAP) syndrome results from somatic mosaic gain‐of‐function variants in PIK3CA . Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue …