Paranchai Boonsawat

Rare variant enrichment analysis in pediatric European Moyamoya Angiopathy patients unveils novel candidate susceptibility genes

Elena M. Cabello, Katharina Steindl, Ivan Ivanovski, Paranchai Boonsawat et autres

Abstract Moyamoya angiopathy (MMA) is a rare steno-occlusive condition resulting in transient ischemic attacks and strokes in children and adults. Previous studies, mainly in adult patients, suggested RNF213 as the most prevalent susceptibility gene due to an Asian founder variant. Nevertheless, the …

ch (code pays fourni par la source)

The utility of chorionic villus sample cells for functionally assessing Noonan syndrome variants

Nicolina Zjacic, Gabriele Siegel, Valeria Sabatino, Martina Mocera et autres

Noonan syndrome (NS) is a congenital disorder that causes pleiotropic developmental problems of varying severity. Its main cause is gain-of-function mutations in genes of the essential Ras-mitogen-activated protein kinase (Ras/MAPK) pathway. There are currently no routine functional tests available for prenatal cases …

The utility of chorionic villus sample cells for functionally assessing noonan syndrome variants

Nicolina Zjacic, Gabriele Siegel, Valeria Sabatino, Martina Mocera et autres

Abstract Background and aims Noonan syndrome (NS) is a congenital disorder that causes pleiotropic developmental problems of varying severity. Its main cause is gain-of-function mutations in genes of the essential Ras-mitogen-activated protein kinase (Ras/MAPK) pathway. There are currently no routine functional tests …

ch, de (code pays fourni par la source)

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen et autres

The UNC13A gene encodes a presynaptic protein that is crucial for setting the strength and dynamics of information transfer between neurons. Here we describe a neurodevelopmental syndrome caused by germline coding or splice-site variants in UNC13A. The syndrome presents with variable degrees …

ch, gb, de, us, fr, ee, ca, jp, br, au, nl, pl, be, in, ir, it (code pays fourni par la source)

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene

Robin A. Pilz, Matthias Begemann, SM Pfister, Paranchai Boonsawat et autres

The detection of complex structural variants in patients with familial cerebral cavernous malformations (FCCM) remains challenging. Short-read whole genome sequencing was performed for a patient with strong clinical evidence of FCCM but negative results from previous genetic tests. The analysis revealed a …

de, ch (code pays fourni par la source)

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling

Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, Katharina Steindl et autres

Zinc and RING finger 3 (ZNRF3) is a negative-feedback regulator of Wnt/β-catenin signaling, which plays an important role in human brain development. Although somatically frequently mutated in cancer, germline variants in ZNRF3 have not been established as causative for neurodevelopmental disorders (NDDs). …

ch, gb, us, es, it, fr, pk, cn, dk, de (code pays fourni par la source)

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

Fang Yang, Anaïs Begemann, Nadine Reichhart, Akvile Haeckel et autres

Anoctamins are a family of Ca 2+ -activated proteins that may act as ion channels and/or phospholipid scramblases with limited understanding of function and disease association. Here, we identified five de novo and two inherited missense variants in ANO4 (alias TMEM16D ) …

de, ch, fr, nl, be, fi (code pays fourni par la source)

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

Reza Asadollahi, Igor Delvendahl, Roman Muff, Ge Tan et autres

Pathogenic heterozygous variants in SCN2A, which encodes the neuronal sodium channel NaV1.2, cause different types of epilepsy or intellectual disability (ID)/autism without seizures. Previous studies using mouse models or heterologous systems suggest that NaV1.2 channel gain-of-function typically causes epilepsy, whereas loss-of-function leads …

ch, gb, de (code pays fourni par la source)

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders

Paranchai Boonsawat, Anselm H. C. Horn, Katharina Steindl, Alessandra Baumer et autres

The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring is unknown. Since neurodevelopmental disorders (NDDs) in their offspring is a major concern of parents-to-be, we addressed the question of residual …

ch, de (code pays fourni par la source)

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao et autres

us, fr, ch, gb, nl, cn, no, it, dk, de, pk (code pays fourni par la source)

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao et autres

ABSTRACT Purpose We describe a novel neurobehavioral syndrome of autism spectrum disorder, intellectual disability, and attention deficit/hyperactivity disorder associated with de novo or inherited deleterious variants in members of the RFX family of genes. RFX genes are evolutionarily conserved transcription factors that …

us, fr, ch, gb, nl, cn, no, it, dk, de, pk (code pays fourni par la source)

Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort

Dennis Kraemer, Silvia Azzarello‐Burri, Katharina Steindl, Paranchai Boonsawat et autres

BACKGROUND: Since the advent of high-throughput sequencing technologies, organised germline screening, independent of the personal and family cancer history, has been frequently proposed. Since ethnic and geographic populations significantly differ in their mutation spectra and prevalence, one critical prerequisite would be the …

ch (code pays fourni par la source)