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MMRN2 mutation underlies a rare form of autosomal-dominant laryngeal malformation

ABSTRACT: MMRN2 mutation underlies a rare form of autosomal-dominant laryngeal malformation

PROVIDER: PRJNA599170 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR10834640_1.fastq.gz	Fastqsanger.gz
	SRR10834640_2.fastq.gz	Fastqsanger.gz
	SRR10834641_1.fastq.gz	Fastqsanger.gz
	SRR10834641_2.fastq.gz	Fastqsanger.gz
	SRR10834642_1.fastq.gz	Fastqsanger.gz

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MMRN2 mutation underlies a rare form of autosomal-dominant laryngeal malformation

Project description:The aim of this study was to investigate the genetic basis and pathogenic mechanism of nonsyndromic laryngeal malformations, including disrupted thyroid cartilage structures and malformed vocal cords, in a four-generation family.

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A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.

Project description:Here we define a ~200 Kb genomic duplication in 2p14 as the genetic signature that segregates with postlingual progressive sensorineural autosomal dominant hearing loss (HL) in 20 affected individuals from the DFNA58 family, first reported in 2009. The duplication includes two entire genes, PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), in addition to four uncharacterized long non-coding (lnc) RNA genes and part of a novel protein-coding gene. Quantitative analysis of mRNA expression in blood samples revealed selective overexpression of CNRIP1 and of two lncRNA genes (LOC107985892 and LOC102724389) in all affected members tested, but not in unaffected ones. Qualitative analysis of mRNA expression identified also fusion transcripts involving parts of PPP3R1, CNRIP1 and an intergenic region between PLEK and CNRIP1, in the blood of all carriers of the duplication, but were heterogeneous in nature. By in situ hybridization and immunofluorescence, we showed that Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea including the spiral ganglion neurons, suggesting changes in expression levels of these genes in the hearing organ could underlie the DFNA58 form of deafness. Our study highlights the value of studying rare genomic events leading to HL, such as copy number variations. Further studies will be required to determine which of these genes, either coding proteins or non-coding RNAs, is or are responsible for DFNA58 HL.

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Comparative proteomic analysis of microvescicoles and exosomes isolated from urine of medullary sponge kidney disease (MSK) versus Autosomal dominant polycystic kidney disease (ADPKD) patients.

Project description:Microvescicles (MV) and exosomes (EX) seem to be involved in the pathogenetic machinery of the autosomal dominant polycystic kidney disease (ADPKD), but, at the moment, no studies have assessed their role in medullary sponge kidney disease (MSK), a sporadic kidney malformation featuring cysts, nephrocalcinosis and recurrent renal stones. To discover their role in this disease we employed a proteomic-based research strategy.

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Defective SEC61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia

Project description:The molecular cause of severe congenital neutropenia (SCN) is unknown in 30-50% of patients. SEC61A1 encodes the α subunit of the heterotrimeric SEC61 complex, which governs endoplasmic reticulum (ER) signal peptide-dependent protein transport and passive calcium leakage. Recently, autosomal dominant mutations in SEC61A1 were reported to be pathogenic in common variable immunodeficiency (CVID) and glomerulocystic kidney disease. However the full spectrum of clinical manifestations in SEC61A1 mutations is yet to be explored. We investigated a SCN patient, the only child of healthy non-consanguineous Belgian parents. We identified a de novo private missense mutation in SEC61A1 (c.A275G;p.Q92R; CADD 24.5; msc 6.099) in the patient. The mutation results in diminished expression of the protein in PBMC and fibroblasts, and an increase in calcium leakage from the ER. In vitro differentiation of CD34+ cells recapitulated the patient’s clinical arrest in granulopoiesis. The impact of Q92R-SEC61α1 on neutrophil maturation was validated using HL-60 cells, where transduction reduced differentiation into CD11b+CD16+ cells. A potential mechanism for this defect is the uncontrolled initiation of the unfolded protein stress response (UPR), with single-cell analysis of primary bone-marrow revealing perturbed UPR in myeloid precursors, and in vitro differentiation of primary CD34+ cells into neutrophils revealing upregulation of the pro-apoptotic CHOP and BiP UPR-response genes. Together, these results support specific autosomal dominant mutations in SEC61A1 causing SCN through dysregulation of the UPR.

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Autosomal Dominant Osteopetrosis: A Natural History Study

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The MLH1 c.-27C>A and c.85G>T variants are borne on a European ancestral haplotype which underlies an autosomal dominant form of MLH1 epimutation.

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Defective SEC61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia

Project description:Defective SEC61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia

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Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.

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