Publications by authors named "Celine Poirsier"
The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding U4, cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants in 50 snRNA-encoding genes in a French cohort of 23,649 individuals with rare disorders and gathered additional cases through international collaborations.
View Article and Find Full Text PDFDiscovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Am J Hum Genet
February 2025
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.
View Article and Find Full Text PDF3q29 duplications: A cohort of 46 patients and a literature review.
Marie Massier
,
Martine Doco-Fenzy
,
Matthieu Egloff
,
Xavier Le Guillou
,
Gwenaël Le Guyader
,
Céline Poirsier
Am J Med Genet A
July 2024
Article Synopsis
- Duplications of the 3q29 chromosomal region are rare genetic variations linked to diverse neurodevelopmental disorders, often causing learning disabilities and neuropsychiatric issues.
- A study involving 31 families revealed different sizes of 3q29 duplications: 14 recurrent, 8 overlapping, and 9 smaller ones, with some patients showing additional genetic factors influencing their conditions.
- Most patients exhibited mild neurodevelopmental disorders, with many duplications being inherited and associated with low rates of intellectual disabilities, suggesting that severe cases might require more detailed genetic examination.
Article Synopsis
- - The Aristaless-related homeobox gene on the X chromosome is crucial for brain development, with well-documented disorders in males, but less clear effects in females, who are often asymptomatic.
- - This study examined 10 unpublished female patients with new pathogenic variants and reviewed 63 previously documented cases, revealing a diverse clinical spectrum among females with these variants.
- - Findings indicated that 42.5% of female carriers are asymptomatic, while 41% exhibit severe symptoms like intellectual disability or developmental conditions, with a higher prevalence of severe phenotypes in those with de novo variants compared to inherited ones.
Introduction: In France, few centres per region offer genetics consultations. Consequently, each centre covers a large area, often requiring patients to take a day off to travel long distances. In certain situations, genetic counselling in particular, a physical exam is not required.
View Article and Find Full Text PDF-related disorder: phenotypic and molecular spectrum.
Jean-Madeleine de Sainte Agathe
,
Ben Pode-Shakked
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Sophie Naudion
,
Vincent Michaud
,
Benoit Arveiler
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Céline Poirsier
J Med Genet
October 2023
Article Synopsis
- The study aims to describe the phenotypic and genotypic spectrum of a neurodevelopmental disorder linked to a specific gene implicated in periventricular nodular heterotopia (PVNH).
- Researchers examined 17 individuals with variants, identifying several types of genetic mutations and their effects on brain structure and function.
- Findings highlighted a range of symptoms, including intellectual disability, seizures, microcephaly, and various neurological and sensory defects, confirming the gene's role in this autosomal dominant syndrome characterized by abnormal neuronal migration.
Article Synopsis
- The study aimed to compare imaging and genetic findings in fetuses with corpus callosum abnormalities identified through prenatal exome sequencing (pES) between 2018 and 2020.
- A total of 113 fetuses were included, revealing pathogenic/likely pathogenic (P/LP) genetic variants in certain types of abnormalities, with significant findings in cases with associated cerebellar issues.
- The results indicated that P/LP variants were more common in non-isolated conditions and certain types of callosal dysgenesis, but no variants were found for isolated short CC, interhemispheric cysts, or pericallosal lipoma.
Article Synopsis
- Chromosome 1p36 deletion syndrome (1p36DS) is a common genetic disorder resulting from a deletion on the short arm of chromosome 1, affecting 1 in every 5,000 to 10,000 live births in the U.S.
- The syndrome is characterized by a range of health issues including developmental delays, heart defects, and distinct facial features.
- This study analyzed 86 patients in France to compare the incidence of 1p36DS with other syndromes and examined how deletion locations influence specific symptoms and overall management of the disorder.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Guillaume Jouret
,
Matthieu Egloff
,
Emilie Landais
,
Olivier Tassy
,
Fabienne Giuliano
,
Céline Poirsier
Am J Med Genet A
January 2023
Article Synopsis
- A recent study focuses on patients with a microduplication in the 19p13.3 region, linked to issues like growth delays, small head size, and developmental delays.
- The research analyzes a large cohort of 24 patients using advanced genomic techniques to better understand the genetic basis of this syndrome.
- The study identifies a new critical region (CR 1) associated with the duplication, which affects gene interactions critical for normal developmental processes, particularly related to head size.
Article Synopsis
- The study identifies 15 new genetic alterations linked to KCNK9 imprinting syndrome (KIS) by analyzing 47 affected individuals, revealing a diverse genetic and phenotypic spectrum.
- It highlights common symptoms of KIS, such as motor and speech delays, intellectual disabilities, and behavioral issues, while also discovering an additional mutational hotspot in the gene involved.
- The research emphasizes that KIS is characterized by complex channel function alterations, which can aid in molecular diagnosis since clinical features alone are insufficient for identification.
Article Synopsis
- A study was conducted on a 4-generation family with Hyperparathyroidism-Jaw Tumor syndrome (HPT-JT) linked to a specific deletion in the CDC73 gene, revealing variable clinical presentations among family members.
- Of the 24 relatives studied, 13 had the gene deletion, with about 50% of individuals showing symptoms of hyperparathyroidism by age 40, leading to surgery in seven patients for parathyroid adenomas.
- Findings included high calcium levels, kidney issues in over half the patients, presence of atypical adenomas, and notable variations in disease expression, even among identical twins, indicating genetics play a significant role in disease severity and manifestation.
Article Synopsis
- The study investigates the clinical and genetic characteristics of β-galactosidase deficiency, focusing on two conditions: GM1-gangliosidosis and mucopolysaccharidosis IVB (MPSIVB).
- Researchers analyzed data from 52 patients, finding a range of clinical symptoms in GM1-gangliosidosis from severe prenatal forms to adult onset.
- The study identified numerous genetic variants, including 18 new ones, linking specific variants to distinct types of these disorders, ultimately aiming to improve patient classification and management.
Article Synopsis
- * Two adult cases (a mother and daughter) were identified with kidney issues, including kidney hypoplasia and end-stage renal disease (ESRD), leading to the diagnosis of TBS confirmed through genetic testing.
- * A literature review of 44 adult TBS cases revealed that 10 had kidney disease, often diagnosed incidentally or due to complications, suggesting TBS could be more common in adults than previously thought, emphasizing the need for ongoing monitoring.
Article Synopsis
- Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a rare genetic disorder causing severe abdominal swelling, a small colon, and reduced movement in the intestines, often linked to mutations in the ACTG2 gene.
- Recent findings have also identified additional mutations in other genes such as MYH11, MYLK, and a potential new gene PDCL3 that may be involved in the condition.
- Research on five patients revealed multiple genetic variants, including a complete absence of PDCL3 expression in affected individuals, suggesting it plays an important role in the disorder due to its involvement in smooth muscle contractility.
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Marta Spodenkiewicz
,
Michel Spodenkiewicz
,
Maureen Cleary
,
Marie Massier
,
Giorgos Fitsialos
,
Céline Poirsier
Biology (Basel)
May 2020
Article Synopsis
- - Prolidase is an important enzyme for metabolizing proline-rich proteins, and its deficiency leads to a rare genetic disorder with various symptoms including intellectual disability and skin lesions.
- - The condition is characterized by multiple health issues such as recurrent infections, autoimmune disorders, and abnormalities in blood cell counts (cytopenia).
- - This study aims to provide a comprehensive review of existing clinical data and research on prolidase deficiency, focusing on patient features, treatment options, and relevant studies.
Article Synopsis
- - Segmental progeroid syndromes are rare genetic disorders that speed up certain aging features and have been researched since the 20th century.
- - The Molecular Genetics Laboratory in Marseille has been using NGS sequencing for four years to diagnose these syndromes in 66 patients, achieving a diagnostic success rate over 60% when there's a specific clinical suspicion.
- - The study identified significant genetic variants in many patients, proposed prenatal testing for some families, and emphasized that this method is an effective first step towards diagnosing these disorders before considering whole genome sequencing.
Article Synopsis
- The study aims to classify Usher syndrome genetic factors based on data from extensive next-generation sequencing research over six years to better understand the condition's impact on individuals with both hearing and vision impairments.
- After analyzing data from 11 studies with 684 Usher patients and 21 studies involving 2,476 patients with isolated deafness, the researchers found significant mutations in specific Usher genes, particularly USH2A and MYO7A.
- The findings suggest that 7.5% of patients with isolated deafness carry mutations related to Usher syndrome, indicating a risk for developing retinitis pigmentosa, and highlight the need for early genetic screening in deaf children.
Article Synopsis
- The study investigated 22q11.2 deletion syndrome (22q11.2DS), a common microdeletion syndrome, focusing on its incidence and symptoms in patients diagnosed after birth across multiple French cytogenetic centers from 1995 to 2013.
- A total of 749 patients were analyzed, with major reasons for referral including congenital heart defects (48.6%), facial abnormalities (49.7%), and developmental delays (40.7%).
- Most cases were diagnosed using FISH technology (96.1%), with over 108 new cases detected annually in France, highlighting congenital heart defects, especially septal defects, as the primary postnatal malformation.
Article Synopsis
- * This study reports three new cases of pure 12p duplication identified through cytogenetic techniques, including one child with a de novo mutation and two related individuals with a direct duplication.
- * The phenotypes of the patients varied, with the child showing severe characteristics similar to "trisomy 12p syndrome," while the mother and son experienced milder symptoms, contributing to our understanding of how genetic variations manifest in different individuals.