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Prepair 1000+

Gene: DBR1

No list

DBR1 (debranching RNA lariats 1)
EnsemblGeneIds (GRCh38): ENSG00000138231
EnsemblGeneIds (GRCh37): ENSG00000138231
OMIM: 607024, Gene2Phenotype
DBR1 is in 6 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

I don't know

PMID: 37656279
Probands had a similar phenotype of intrauterine and postnatal growth restriction with a collodion-like presentation at birth.
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families. c.200A > G (p.Tyr67Cys)
- Total of 7 affected children across 6 families. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life. No evidence of viral-induced ecephalitis.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.

PMID: 38325642
Report 2 patients (sisters) with acute necrotizing encephalopathy, both homozygous for c.359T > C; p. (Ile120 Thr) variant.

Adequate evidence for inclusion?
Created: 6 Mar 2025, 5:40 a.m. | Last Modified: 6 Mar 2025, 5:40 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510; Viral infections of the brainstem; Ichthyosis (MONDO#0019269)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
OMIM
607024
Clinvar variants
Variants in DBR1
Penetrance
None
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance

Andrew Coventry (Victorian Clinical Genetics Services)

gene: DBR1 was added gene: DBR1 was added to Prepair 1000+. Sources: Expert list Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal