Publications by authors named "Jacques Puechberty"

Article Synopsis
  • A case study describes a pregnant woman who underwent chorionic villus sampling due to a high risk associated with fetal nuchal translucency.
  • An intragenic deletion affecting the Duchenne muscular dystrophy (DMD) gene was detected in a male fetus, but was found only in a small percentage (23-30%) of placental cells.
  • The report highlights the need for amniocentesis after identifying mosaicism in the placenta to confirm that any genetic changes are not affecting the fetus, as this instance represents only the second documented case of confined placental mosaicism involving a DMD deletion.
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Introduction: Accurate identification and characterization of Large Genomic Rearrangements (LGR), especially duplications, are crucial for precise diagnosis and risk assessment. In this report, we characterized an intragenic duplication breakpoint of to determine its pathogenicity significance.

Methods: A 52-year-old female with triple-negative breast cancer was diagnosed with a novel LGR.

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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.
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  • Titin protein, encoded by the TTN gene with 364 exons, is key for muscle elasticity and has various isoforms due to extensive alternative splicing in skeletal and cardiac muscles.
  • Variants in the TTN gene can cause myopathies with diverse symptoms and can be transmitted in dominant or recessive patterns.
  • The implementation of long-reads sequencing technology helps accurately identify and locate variants in complex repeated regions of the TTN gene, enhancing diagnosis and screening for TTN-related myopathies in patients and their relatives.
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Research Question: Should whole-genome investigations be considered systematically before a complex chromosomal abnormality preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR) management is carried out using conventional cytogenetic techniques?

Design: A male carrying a putative rare interchromosomal reciprocal insertion (IRI) 46,XY,ins(14;?)(q11;?).ish der(14)ins(14;22)(q11.2;q11.

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Article Synopsis
  • Inverted duplication deletion 8p (invdupdel(8p)) is a rare genetic condition linked to developmental delays and intellectual disabilities, often presenting with brain abnormalities.
  • A study analyzed 36 new cases, revealing that 97% of patients experienced developmental issues, with a significant number also suffering from seizures.
  • By comparing this data with 99 previously reported cases, researchers identified a specific 5.1 Mb region in chromosome 8 associated with abnormalities of the corpus callosum, offering insights into potential genetic factors involved.
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  • Globozoospermia is a type of male infertility characterized by round-headed sperm that lack an acrosome, with genetic anomalies in the DPY19L2 gene accounting for 50-70% of cases, often due to complete gene deletions.* -
  • A study involving 69 patients found that 36% had homozygous deletions of the DPY19L2 gene, and even higher proportions of genetic defects correlated with increased rates of globozoospermia, indicating a strong relationship between genotype and phenotype.* -
  • The study suggests a new diagnostic approach focusing on patients with over 50% globozoospermia by initially testing for DPY19L2 deletions using
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Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties. The gene, one of the five genes implicated in this disease, is involved in 8-20% of cases. In this study, we aimed to identify and characterize the two causal variants in a French patient with typical Usher syndrome clinical features.

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Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteristics remain, and not all mutations can be screened with this method, particularly triplet expansion mutations that frequently concern prenatal diagnosis requests. The objective of this study was to develop an approach to isolate and analyze Circulating Trophoblastic Fetal Cells (CFTCs) for NIPD of monogenic diseases caused by triplet repeat expansion or point mutations.

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Induced pluripotent stem cells (iPSCs) have revolutionized the study of human diseases as they can renew indefinitely, undergo multi-lineage differentiation, and generate disease-specific models. However, the difficulty of working with iPSCs is that they are prone to genetic instability. Furthermore, genetically unstable iPSCs are often discarded, as they can have unforeseen consequences on pathophysiological or therapeutic read-outs.

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Background: Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic complete tetrasomy 21.

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Article Synopsis
  • The 15q11.2 deletion is linked to neurodevelopmental disorders and its clinical implications are challenging due to confusing literature surrounding it.
  • This study aimed to determine the effect size of this deletion using meta-analysis of various case-control studies, revealing a decrease in IQ by 4.3 points among carriers.
  • The findings suggested that while the deletion has some association with disorders like intellectual disabilities and epilepsy, it is not significant enough to warrant discussion in clinical settings, as it mostly shows mild effects.
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  • A patient with mild intellectual deficiency carries a de novo balanced translocation t(3;5), and detailed genetic testing showed no disruption of genes at the breakpoints.
  • The breakpoint on chromosome 5 was found 228-kb upstream of the MEF2C gene, which was overexpressed in the patient's cells during RNA studies.
  • This case is notable as the first documented instance of a balanced translocation that leads to MEF2C overexpression, resembling a functional duplication, paralleling existing cases of similar intellectual disabilities linked to microduplications of the same gene.
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  • The text refers to a correction made to a previously published article with the DOI 10.1038/s41525-017-0035-2.
  • The correction likely addresses errors or omissions in the original publication.
  • This ensures that readers have access to accurate and updated information related to the research discussed in the article.
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  • Uniparental disomy (UPD) testing is advised during pregnancy for fetuses with balanced Robertsonian translocations involving chromosomes 14 or 15, which have a low estimated risk of ~0.6-0.8% for UPD.
  • A multicenter study involving 1,747 UPD tests revealed only one case of UPD(14) linked to a maternally inherited translocation, indicating a much lower risk than previously thought.
  • The updated estimated risk of UPD in these cases is about 0.06%, and since the risk of miscarriage from invasive testing is higher, prenatal UPD testing is not recommended, and parents can be reassured.
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Article Synopsis
  • A study investigated balanced chromosomal rearrangements in patients with intellectual disabilities and congenital anomalies using next-generation sequencing to identify breakpoints at a molecular level.
  • The research characterized breakpoints in 55 patients, revealing that 89% of chromosomal rearrangements were detected, with non-homologous end-joining identified as the primary repair mechanism.
  • The study found that a diagnosis could be established in about 44.8% of patients, revealing disruptions in genes and suggesting that paired-end whole genome sequencing is effective for clinical applications in structural variation analysis.
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  • The study aimed to assess the effectiveness of chromosome microarray (CMA) testing in detecting genetic issues in fetuses diagnosed with isolated congenital heart defects (CHDs) after prenatal diagnosis.
  • An analysis of 239 fetuses revealed 33 copy number variations (CNVs), with 19 being pathogenic, suggesting a 10.4% overall detection rate of anomalies, which varied by specific CHD type.
  • The findings indicate that CMA offers a clinically significant increase in diagnostic yield (3.1%), emphasizing the need for testing beyond just the common 22q11.21 chromosomal abnormalities for isolated CHD cases.
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  • * A study of 18 individuals with mild intellectual disabilities and behavioral issues revealed that they are haploinsufficient for NFIB, with various genetic alterations including microdeletions and point mutations affecting the NFIB gene.
  • * The analysis of a mouse model lacking NFIB in the cortex showed enlarged cerebral cortex while maintaining overall brain structure, suggesting that NFIB haploinsufficiency leads to intellectual disabilities accompanied by macrocephaly.
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Background: Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a universal test based on fluorescent multiplex PCR and size fragment analysis for an indirect diagnosis of cystic fibrosis (CF).

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Article Synopsis
  • Next-generation sequencing (NGS) revolutionized our understanding of genome structure by allowing for detailed analysis of genetic information.
  • Bioinformatic tools are essential for processing the vast amount of data generated by NGS and for studying the 3D organization of chromosomes.
  • The chapter discusses how to use various online data browsers to examine 3D chromatin changes related to chromosomal rearrangements, like chromothripsis, and assess their effects on clinical outcomes and gene expression.
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Hydatidiform mole is an aberrant human pregnancy characterized by early embryonic arrest and excessive trophoblastic proliferation. Recurrent hydatidiform moles are defined by the occurrence of at least two hydatidiform moles in the same patient. Fifty to eighty percent of patients with recurrent hydatidiform moles have biallelic pathogenic variants in NLRP7 or KHDC3L.

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  • Phelan-McDermid syndrome (PMS) is a genetic condition linked to deletions on chromosome 22q13, leading to symptoms like intellectual disability, speech delays, and autism spectrum disorders, with severity varying across individuals.
  • The study involved analyzing 85 patients and found that 28% had abnormalities in the corpus callosum, a brain structure important for communication between hemispheres, and identified genomic regions that may contribute to specific symptoms like lack of speech.
  • Additionally, researchers found significant genetic variations that might influence the severity of PMS and noted that some family members with the deletion could remain unaffected, indicating potential compensatory mechanisms for managing the disorder.
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Introduction: A large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome sequencing in consanguineous families. Disease-associated variants in TRAPPC9 were reported in eight multiplex consanguineous sibships from different ethnic backgrounds, and led to the delineation of the phenotype. Affected patients have microcephaly, obesity, normal motor development, severe ID, and language impairment and brain anomalies.

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Objectives: Inflammasomes are multiprotein complexes that sense pathogens and trigger biological mechanisms to control infection. Nucleotide-binding oligomerisation domain-like receptor (NLR) containing a PYRIN domain 1 (NLRP1), NLRP3 and NLRC4 plays a key role in this innate immune system by directly assembling in inflammasomes and regulating inflammation. Mutations in and are linked to hereditary autoinflammatory diseases, whereas polymorphisms in are associated with autoimmune disorders such as vitiligo and rheumatoid arthritis.

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Intellectual disability (ID) is a frequent feature but is highly clinically and genetically heterogeneous. The establishment of the precise diagnosis in patients with ID is challenging due to this heterogeneity but crucial for genetic counseling and appropriate care for the patients. Among the etiologies of patients with ID, apparently balanced de novo rearrangements represent 0.

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