Anaïs Begemann

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET

Yuwei Shi, Ananília Medeiros Gomes da Silva, Christophe Debuy, Sourav Ghosh et autres

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET

Yuwei Shi, Ananilia Silva, Christophe Debuy, Sourav Ghosh et autres

PURPOSE: SET is a member of the inhibitor of histone acetyltransferases complex involved in transcriptional silencing and gene regulation. Pathogenic variants in SET are postulated to cause neurodevelopmental disorder (NDD) phenotypes, but as only a few individuals are described, detailed clinical information …

nl, ca, us, gb, es, ch, fr, lu, sa, de (code pays fourni par la source)

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking

Pilar Chacon Millan, Antonella Delicato, Arif Mahmood, Alfonsina Tirozzi et autres

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking

Pilar Chacon-Millan, Antonella Delicato, Arif Mahmood, Alfonsina Tirozzi et autres

it, fr, tr, sa, ps, ch, us, gb, mx (code pays fourni par la source)

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila

Franz Marius Müller, Sonja Neuser, Gaurav Shrestha, Netra P. Neupane et autres

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila

Franz Müller, Sonja Neuser, Gaurav Shrestha, Netra Prasad Neupane et autres

domain in synaptic plasticity this result might implicate an influence of the Thr1729Met on synaptic function.

de, us, it, ch, nl, il, fr, hk (code pays fourni par la source)

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies

Gang Zhang, Ya-Ping Lu, Lingling Xie, Anaïs Begemann et autres

OBJECTIVE: Brain-specific angiogenesis inhibitor 1-associated protein 2 (BAIAP2) plays a crucial role in dendritic spine morphogenesis and excitatory synapse formation. We establish de novo variants in BAIAP2 as a novel genetic cause for developmental and epileptic encephalopathies (DEEs). METHODS: Using whole exome/genome …

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

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape

Jeanne Mari V. Bang, Christina Ringmann Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund et autres

Abstract Severe loss of function variants in the splicing regulatory protein RBM10 are known to cause TARP syndrome, a rare X-linked recessive congenital syndrome. In recent years, individuals with milder phenotypes have been published, suggesting a broader phenotypic spectrum. We report 37 …

dk, de, es, gb, us, nl, it, be, ie, au, fr, ch, ca, br (code pays fourni par la source)

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris et autres

Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. This work aims to further delineate the phenotypic spectrum …

fr, ca, nl, ch, be, au, us (code pays fourni par la source)

Further delineation of the SCAF4-associated neurodevelopmental disorder

Cosima M. Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús et autres

While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and …

ch, es, us, de, ca, nl, pk, fr, pt, nz, kw, sa, dk (code pays fourni par la source)

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability

Lachlan De Hayr, Laura E.R. Blok, Kerith‐Rae Dias, Jingyi Long et autres

PURPOSE: This study details a novel syndromic form of autosomal recessive intellectual disability resulting from recessive variants in GTF3C3, encoding a key component of the DNA-binding transcription factor IIIC, which has a conserved role in RNA polymerase III-mediated transcription. METHODS: Exome sequencing, …

au, nl, ch, us, Égypte, de, sa, gb (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)