0000000000515945
AUTHOR
Romano Tenconi
showing 16 related works from this author
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
2011
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…
Additional file 9 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 9: Table S5. Primers used for pyrosequencing analysis.
Additional file 2 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 2: Figure S1. Pyrosequencing analysis of seven imprinted DMRs.
Additional file 3 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 3 Figure S2. Batch effect adjustment of array datasets.
Additional file 11 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with …
2020
Additional file 11: Table S7. Primers for Sanger sequencing validation.
Additional file 10 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with …
2020
Additional file 10: Table S6. Sex and age information of controls of methylome analysis.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
2021
PURPOSE: ADP ribosylation factor guanine nucleotide exchange factors (ARFGEFs) are a family of proteins implicated in cellular trafficking between the Golgi apparatus and the plasma membrane through vesicle formation. Among them is ARFGEF1/BIG1, a protein involved in axon elongation, neurite development, and polarization processes. ARFGEF1 has been previously suggested as a candidate gene for different types of epilepsies, although its implication in human disease has not been well characterized.METHODS: International data sharing, in silico predictions, and in vitro assays with minigene study, western blot analyses, and RNA sequencing.RESULTS: We identified 13 individuals with heterozygous…
Additional file 4 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 4: Figure S3. Violin plots showing whole-genome DNA methylation profiles of probands, their siblings and mothers, and 12 controls.
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting…
2020
Abstract Background PADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is required for the correct development of early embryo. Maternal-effect variants of the subcortical maternal complex proteins are associated with heterogeneous diseases, including female infertility, hydatidiform mole, and imprinting disorders with multi-locus imprinting disturbance. While the involvement of PADI6 in infertility is well demonstrated, its role in imprinting disorders is less well established. Results We have identified by whole-exome sequencing analysis four cases of Beckwith-Wiedemann syndrome with multi-locus imprintin…
Fraser syndrome: epidemiological study in a European population
2013
Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12, 886, 464 births (minimal estimated prevalence of 0.20 per 100, 000 or 1:495, 633 births). Most cases (18/26 ; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230, 695 births, compared to the prevalence 1 in 1, 091, 175 fo…
Additional file 7 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 7: Figure S4. Sanger sequencing validating the PADI6 variants identified by WES.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in fem…
2021
Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals…
Additional file 6 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 6: Table S3. Maternal genetic variants in homozigosity or compound heterozigosity identified by WES.
Additional file 5 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 5: Table S2. Methylation defects of imprinted DMRs in patients affected by BWS-MLID whose mothers are carriers of loss of function mutations in PADI6.
Additional file 1 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 1: Table S1. Pathogenic variants of PADI6 and corresponding clinical phenotype.
Additional file 8 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 8: Table S4 . List of the maternal-effect gene variants associated with MLID in the offspring identified so far and corresponding clinical phenotype.