Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ABSTRACT: Identification of genetic defects in families segregating rare eye disorders using next generation genomic tools

PROVIDER: PRJNA687138 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR13286675_1.fastq.gz	Fastqsanger.gz
	SRR13286675_2.fastq.gz	Fastqsanger.gz
	SRR13286676_1.fastq.gz	Fastqsanger.gz
	SRR13286676_2.fastq.gz	Fastqsanger.gz

Items per page:

1 - 4 of 4

Similar Datasets

Genetics of Waardenburg Syndrome

Project description:Identification of genetic defects in families segregating rare eye disorders using next generation genomic tools

| PRJEB41944 | ENA

Project description:Identification of genetic defects in families segregating rare genetic disorders using next generation genomic tools

| PRJEB48950 | ENA

Project description:Identification of genetic defects in families segregating rare inherited diseases using next generation genomic tools

| PRJNA708138 | ENA

Next generation rare variant discovery in multiplex AD families

Project description:Next generation rare variant discovery in multiplex AD families

| PRJNA517200 | ENA

Next generation rare variant discovery in multiplex AD families

Project description:Next generation rare variant discovery in multiplex AD families

| PRJNA517199 | ENA

Human biallelic deletion involving MAB21L2 regulatory sequences reveals key to structural eye anomalies across species

Project description:Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual impairment. While non-coding regulatory sequences are increasingly recognised as contributing to disease burden, characterising their impact on gene function and phenotype remains challenging. Furthermore, little is known of the nature and extent of their contribution to AMC phenotypes. We identified two families with variants in or near MAB21L2. The first proband, with microphthalmia and coloboma, had a likely pathogenic missense variant (c.338G>C; p.[Trp113Ser]), segregating within the family. The second individual, presenting with microphthalmia, had an ~113.5kb homozygous deletion 19.38kb upstream of MAB21L2. Modelling the deletion led to transient small lens and coloboma in zebrafish, and microphthalmia and coloboma in Xenopus tropicalis. Conservation analysis identified 15 non-genic conserved elements (CE) within the deleted region, while ChIP-seq data from mouse embryonic stem cells demonstrated one of these (CE14) binds OTX2, a protein with an established role in eye development. Targeted disruption of CE14 in Xenopus tropicalis recapitulated an ocular coloboma phenotype, supporting its role in eye development. Together, our data provides insights into regulatory mechanisms underlying eye development, and highlights the importance of non-coding sequences as a source of genetic diagnoses in AMC.

2024-08-13 | GSE241711 | GEO

Homo sapiens

Project description:Genetic Defects in familial renal disorders

| PRJNA157229 | ENA

Genetic Defects in familial renal disorders

Project description:Genetic Defects in familial renal disorders

| PRJNA89513 | ENA

Project description:Genetic causes of rare neurodegenerative disorders

| PRJNA520742 | ENA

Second hit rare genetic variants in families with seemingly GBA gene associated ParkinsonÃ¢Â€Â™s disease

Project description:In this study, we explored the possibility that rare variation in the genetic background may be an additional risk factor for Parkinson's Disease (PD) in families segregating pathogenic GBA gene variants. We performed whole-genome sequencing, rare variant filtering, segregation analysis and functional validation of PD cosegregating rare genetic variation in two families segregating PD associated GBA variants c.115+1G>A (ClinVar ID: 93445, ) and p.L444P (ClinVar ID: 4288) respectively. We found rare genetic variation in the HSP70 co-chaperone DnaJ homolog subfamily B member 6 (DNAJB6) and lysosomal protein prosaposin (PSAP) as additional factors possibly influencing PD risk in the two families.

| EGAS00001004777 | EGA

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data