SAMN44421797
External Id
Shiraz university of medical science
INSDC center name
2024-10-25T00:00:00Z
INSDC first public
2024-10-25T13:07:41.639Z
INSDC last update
live
INSDC status
Human
NCBI submission model
Human.1.0
NCBI submission package
ERS23282495
SRA accession
38
age
Department of Cardiology, School of Medicine, Shiraz University of Medical Sciences
biomaterial_provider
2021-12-27
collection_date
we describe a rare family case of new cardiomyopathy in the context of TRMP4 and Cadherin 23 mutation in Ashera syndrome. All patients were referred to the emergency center of Shahid Faqihi Hospital in Shiraz. Due to the diagnostic symptoms, they were referred to the arrhythmia center of this hospital by an emergency doctor. The specialized clinical team consisted of one general cardiologist, one electrophysiology fellowship and one echocardiography fellowship. All the tests and experiments have been done in the specialized laboratories of the same hospital. Molecular genetic test results in patients Genetic analysis for patient 2 showed homozygous mutation in TRPM4 and CDH23 gene. A 38-year-old healthy woman and her daughter (who was born with congenital deafness and muteness) had homozygous mutations in TRPM4 and CDH23 genes. A 42-year-old female patient who was congenitally deaf and dumb also showed heterozygous mutations in TRPM4 and CDH23 genes. (She died). And in men: Patient 1 (male) showed mutations in TRPM4 and CDH23 genes, and the 38-year-old deceased (as mentioned above) had deafness since birth. But no genetic diagnostic tests were performed. Genetic tests The genetic tests considered by the team included: Connexin 26 (GJB2) sequencing and (GJB6) Connexin 30 sequencing and (GJB3) Connexin 31 sequencing. The examined sample included genomic DNA isolated from patients' blood. The method used was coding region sequencing. Targeted sequencing was used to enrich the exons of selected protein coding genes as well as some other important genomic regions (genes related to Usher syndrome). Next generation sequencing was performed using Illumina sequencing with <95% sensitivity. In general, the target areas were examined with a sensitivity of 99%. In this test, point mutation and micro-insertion/deletions and duplication (<20bp)can be simultaneously detected.Bioinformatics analysis of the sequencing results was performed using international databases and standard bioinformatics software. Interpretation of genetic test results Mutation was not identified in coding region of the connexin 26, 30 and 31. A homozygous and private, deleterious, nonsense mutation was identified in the CDH23 gene (Table 2), This mutation was previously recorded in autosomal recessive Usher syndrome PMID:11090341 under different NM-ID and the sample of ID type patients was reported. In these results, a frame shift was detected in the TPRM4 gene. This type of mutation has been reported in patients with autosomal dominant familial progressive heart block, type IB. Considering the positive family history (two uncles with pacemaker), this mutation is most likely pathogenic. This mutation was not previously reported and therefore, was classified as a variant of unknown significance (VUS). Interpretation: mutation in the CDH23 gene related to Usher syndrome Proband: CDH23:nm_022124:exon46:c.C6319T:p.R2107X. At a glance, the general information of the gene mutation that we have obtained is as follows: biosample_accession:Connexin 26 (GJB2) sequencing and (GJB6) Connexin 30 sequencing and (GJB3) Connexin 31 sequencing. sample_name: ARZHANKOO assembly_date:27 DEC 2021 assembly_name:DNA isolated from patients' blood assembly_method:Next generation sequencing was performed using Illumina sequencing with <95% sensitivity assembly_method_version:2 genome_coverage sequencing_technology reference_genome update_for bacteria_available_from :The genome sample is only extracted from human Genomic DNA Isolated from EDTA blood. filename nov3_1: MaSuRCA 1 10x PacBio c.6319C>T,p. R2107X genome1.fsa strain_xyz: C.2698-2699INSacac:P.y900FS in TRPM4 gene Newbler 1 10x Illumina NextSeq 500 ABDC00000000 genome2.fsa Bp22334 Velvet 16 10x Illumina MiSeq
description
cardiomyopathy
disease
final
disease_stage
Iran: Shiraz
geo_loc_name
born with congenital deafness and muteness
health_state
DNA isolated from patients' blood
isolate
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
cardiomyopathy in the context of TRMP4 and Cadherin 23 mutation in Ashera syndrome
phenotype
4
population
iran
race
pooled male and female
sex
DNA isolated from patients' blood
tissue
Human sample from Connexin 26 (GJB2) sequencing and (GJB6) Connexin 30 sequencing and (GJB3) Connexin 31 sequencing
title