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Article ; Online: Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology.

Gómez-Conde, Sara / Dunand, Olivier / Hummel, Aurélie / Morinière, Vincent / Gauthier, Marion / Mesnard, Laurent / Heidet, Laurence

Clinical genetics

2022 Volume 103, Issue 1, Page(s) 114–118

Abstract: Integrin Subunit Alpha 8 gene (ITGA8) encodes an integrin chain that is known to be critical in the early stage of the kidney development. Bi-allelic pathogenic variants in ITGA8 are associated with bilateral renal agenesis, as well as anomalies ... ...

Abstract	Integrin Subunit Alpha 8 gene (ITGA8) encodes an integrin chain that is known to be critical in the early stage of the kidney development. Bi-allelic pathogenic variants in ITGA8 are associated with bilateral renal agenesis, as well as anomalies involving urogenital system. Here, we report two unrelated patients presenting with slowly progressing chronic kidney disease associated with bilateral renal hypodysplasia carrying homozygous loss of function variants in the ITGA8 gene. These results broaden the clinical and genotypic spectrum of ITGA8 defects, revealing the high and unexpected degree of phenotypic heterogeneity of this autosomal recessive disease. Our study emphasizes the usefulness of Next-Generation Sequencing in unraveling the genetic cause of chronic kidney disease of unknown etiology, and raises the question of genetic modifiers involved in the variation of the phenotypes associated with autosomal recessive ITGA8 pathogenic variants.
MeSH term(s)	Humans ; Integrin alpha Chains/genetics ; Kidney Diseases/genetics
Chemical Substances	Integrin alpha Chains ; ITGA8 protein, human
Language	English
Publishing date	2022-09-17
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14229
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Article ; Online: VNtyper enables accurate alignment-free genotyping of

Saei, Hassan / Morinière, Vincent / Heidet, Laurence / Gribouval, Olivier / Lebbah, Said / Tores, Frederic / Mautret-Godefroy, Manon / Knebelmann, Bertrand / Burtey, Stéphane / Vuiblet, Vincent / Antignac, Corinne / Nitschké, Patrick / Dorval, Guillaume

iScience

2023 Volume 26, Issue 7, Page(s) 107171

Abstract: The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease- ...

Abstract	The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease-
Language	English
Publishing date	2023-06-17
Publishing country	United States
Document type	Journal Article
ISSN	2589-0042
ISSN (online)	2589-0042
DOI	10.1016/j.isci.2023.107171
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Article ; Online: Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.

Fila, Marc / Morinière, Vincent / Eckart, Philippe / Terzic, Joelle / Gubler, Marie-Claire / Antignac, Corinne / Heidet, Laurence

Pediatric nephrology (Berlin, Germany)

2020 Volume 35, Issue 6, Page(s) 1125–1128

Abstract: Background: Bi-allelic loss of function variations in genes encoding proteins of the renin-angiotensin system (AGT, ACE, REN, AGTR1) are associated with autosomal recessive renal tubular dysgenesis, a severe disease characterized by the absence of ... ...

Abstract	Background: Bi-allelic loss of function variations in genes encoding proteins of the renin-angiotensin system (AGT, ACE, REN, AGTR1) are associated with autosomal recessive renal tubular dysgenesis, a severe disease characterized by the absence of differentiated proximal tubules leading to fetal anuria and neonatal end-stage renal disease. Case-diagnosis/treatment: We identified bi-allelic loss of function mutations in ACE, the gene encoding angiotensin-converting enzyme, in 3 unrelated cases displaying progressive chronic renal failure, whose DNAs had been sent for suspicion of juvenile hyperuricemic nephropathy, nephronophthisis, and cystic renal disease, respectively. In all cases, patients were affected with anemia whose severity was unexpected regarding the level of renal failure and with important polyuro-polydipsia. Conclusions: Bi-allelic loss of function mutation of ACE can have atypical and sometimes late presentation with chronic renal failure, anemia (out of proportion with the level of renal failure), and polyuro-polydipsia. These data illustrate the usefulness of next generation sequencing and "agnostic" approaches to elucidate cases with chronic kidney disease of unknown etiology and to broaden the spectrum of phenotypes of monogenic renal diseases. It also raises the question of genetic modifiers involved in the variation of the phenotypes associated with these mutations.
MeSH term(s)	Adolescent ; Child, Preschool ; Female ; Humans ; Infant, Newborn ; Kidney Tubules, Proximal/abnormalities ; Male ; Mutation ; Renal Insufficiency, Chronic/diagnosis ; Renal Insufficiency, Chronic/genetics ; Renin-Angiotensin System/genetics ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/genetics
Language	English
Publishing date	2020-03-20
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-020-04524-4
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Article ; Online: The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases.

Iorio, Pauline / Heidet, Laurence / Rutten, Caroline / Garcelon, Nicolas / Audrézet, Marie-Pierre / Morinière, Vincent / Boddaert, Nathalie / Salomon, Rémi / Berteloot, Laureline

Pediatric nephrology (Berlin, Germany)

2020 Volume 35, Issue 6, Page(s) 1033–1040

Abstract: Background: While typical ultrasound patterns of ciliopathy-related cystic kidney diseases have been described in children, ultrasound findings can overlap between different diseases and atypical patterns exist. In this study, we assessed the presence ... ...

Abstract	Background: While typical ultrasound patterns of ciliopathy-related cystic kidney diseases have been described in children, ultrasound findings can overlap between different diseases and atypical patterns exist. In this study, we assessed the presence of the "salt and pepper" pattern in different renal ciliopathies and looked for additional ultrasound features. Methods: This single-center, retrospective study included all patients with a molecular-proven diagnosis of renal ciliopathy, referred to our center between 2007 and 2017. Images from the first and follow-up ultrasound exams were reviewed. Basic ultrasound features were grouped into patterns and compared to genetic diagnoses. The "salt and pepper" aspect was described as enlarged kidneys with heterogeneous, increased parenchymal echogenicity. Results: A total of 41 children with 5 different renal ciliopathies were included (61% male; median age, 6 years [range, 3 days to 17 years]). The "salt and pepper" pattern was present in 14/15 patients with an autosomal recessive polycystic kidney disease (ARPKD). A similar pattern was found in 1/4 patients with an autosomal dominant polycystic kidney disease and in 1/11 patients with HNF1B mutation. Additional signs found were areas of cortical sparing, comet-tail artifacts, and color comet-tail artifacts. Conclusion: Although the "salt and pepper" ultrasound pattern is predominantly found in ARPKD, it may be detected in other ciliopathies. The color comet-tail artifact is an interesting sign when suspecting a renal ciliopathy in case of enlarged hyperechoic kidneys with no detectable microcysts on B-mode grayscale ultrasound.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Databases, Factual ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Polycystic Kidney, Autosomal Dominant/diagnostic imaging ; Polycystic Kidney, Autosomal Dominant/genetics ; Polycystic Kidney, Autosomal Dominant/pathology ; Retrospective Studies ; Ultrasonography, Doppler, Color
Language	English
Publishing date	2020-02-10
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-020-04480-z
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Article ; Online: Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.

Dorval, Guillaume / Jeanpierre, Cécile / Morinière, Vincent / Tournant, Carole / Bessières, Bettina / Attié-Bittach, Tania / Amiel, Jeanne / Spaggari, Emmanuel / Ville, Yves / Merieau, Elodie / Gubler, Marie-Claire / Saunier, Sophie / Heidet, Laurence

Pediatric nephrology (Berlin, Germany)

2021 Volume 36, Issue 8, Page(s) 2361–2369

Abstract: Background: Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 ... ...

Abstract	Background: Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 encodes phosphomannomutase 2, a key enzyme in N-glycosylation. While biallelic coding PMM2 mutations are involved in congenital disorder of glycosylation CDG1A, that particular variant in the promoter of the gene, either in the homozygous state or associated with a mutation in the coding exons of the gene, is thought to restrict the N-glycosylation defect to the kidney and the pancreas. Methods: Targeted exome sequencing of a panel of genes involved in monogenic kidney diseases. Results: We identified a PMM2 variant at position -167 associated with a pathogenic PMM2 variant in the coding exons in 3 families, comprising 6 cases affected with a cystic kidney disease. The spectrum of phenotypes was very broad, from extremely enlarged fetal cystic kidneys in the context of a COACH-like syndrome, to isolated cystic kidney disease with small kidneys, slowly progressing toward kidney failure in adulthood. Hypoglycemia was reported only in one case. Conclusion: These data show that the PMM2 promotor variation, in trans of a PMM2 coding mutation, is associated with a wide spectrum of kidney phenotypes, and is not always associated with extra-renal symptoms. When present, extra-renal defects may include COACH-like syndrome. These data prompt screening of PMM2 in unresolved cases of fetal hyperechogenic/cystic kidneys as well as in cystic kidney disease in children and adults. Graphical Abstract.
MeSH term(s)	Congenital Hyperinsulinism ; Humans ; Mutation ; Phenotype ; Phosphotransferases (Phosphomutases) ; Polycystic Kidney Diseases ; Promoter Regions, Genetic ; Syndrome
Chemical Substances	Phosphotransferases (Phosphomutases) (EC 5.4.2.-) ; phosphomannomutase (EC 5.4.2.8) ; phosphomannomutase 2, human (EC 5.4.2.8)
Language	English
Publishing date	2021-02-13
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-021-04953-9
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Article ; Online: The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Kidney international

2023 Volume 104, Issue 2, Page(s) 378–387

Abstract: Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of ... ...

Abstract	Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted and whole exome sequencing identified disease-causing variants in 600 patients from 496 families with a detection rate of 71%. Of 788 pathogenic variants, 40 known ciliopathy genes were identified. However, the majority of patients (53%) bore biallelic pathogenic variants in NPHP1. NPH-causing gene alterations affected all ciliary modules defined by structural and/or functional subdomains. Seventy six percent of these patients had progressed to kidney failure, of which 18% had an infantile form (under five years) and harbored variants affecting the Inversin compartment or intraflagellar transport complex A. Forty eight percent of patients showed a juvenile (5-15 years) and 34% a late-onset disease (over 15 years), the latter mostly carrying variants belonging to the Transition Zone module. Furthermore, while more than 85% of patients with an infantile form presented with extra-kidney manifestations, it only concerned half of juvenile and late onset cases. Eye involvement represented a predominant feature, followed by cerebellar hypoplasia and other brain abnormalities, liver and skeletal defects. The phenotypic variability was in a large part associated with mutation types, genes and corresponding ciliary modules with hypomorphic variants in ciliary genes playing a role in early steps of ciliogenesis associated with juvenile-to-late onset NPH forms. Thus, our data confirm a considerable proportion of late-onset NPH suggesting an underdiagnosis in adult chronic kidney disease.
MeSH term(s)	Adult ; Humans ; Kidney Failure, Chronic/diagnosis ; Polycystic Kidney Diseases/complications ; Kidney Diseases, Cystic/genetics ; Kidney Diseases, Cystic/pathology ; Mutation ; Ciliopathies/genetics
Language	English
Publishing date	2023-05-23
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	120573-0
ISSN	1523-1755 ; 0085-2538
ISSN (online)	1523-1755
ISSN	0085-2538
DOI	10.1016/j.kint.2023.05.007
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Article ; Online: A wave of deep intronic mutations in X-linked Alport syndrome.

Kidney international

2023 Volume 104, Issue 2, Page(s) 367–377

Abstract: X-linked Alport syndrome (XLAS) is an inherited kidney disease caused exclusively by pathogenic variants in the COL4A5 gene. In 10-20% of cases, DNA sequencing of COL4A5 exons or flanking regions cannot identify molecular causes. Here, our objective was ... ...

Abstract	X-linked Alport syndrome (XLAS) is an inherited kidney disease caused exclusively by pathogenic variants in the COL4A5 gene. In 10-20% of cases, DNA sequencing of COL4A5 exons or flanking regions cannot identify molecular causes. Here, our objective was to use a transcriptomic approach to identify causative events in a group of 19 patients with XLAS without identified mutation by Alport gene panel sequencing. Bulk RNAseq and/or targeted RNAseq using a capture panel of kidney genes was performed. Alternative splicing events were compared to those of 15 controls by a developed bioinformatic score. When using targeted RNAseq, COL4A5 coverage was found to be 23-fold higher than with bulk RNASeq and revealed 30 significant alternative splicing events in 17 of the 19 patients. After computational scoring, a pathogenic transcript was found in all patients. A causative variant affecting COL4A5 splicing and absent in the general population was identified in all cases. Altogether, we developed a simple and robust method for identification of aberrant transcripts due to pathogenic deep-intronic COL4A5 variants. Thus, these variants, potentially targetable by specific antisense oligonucleotide therapies, were found in a high percentage of patients with XLAS in whom pathogenic variants were missed by conventional DNA sequencing.
MeSH term(s)	Humans ; Nephritis, Hereditary/diagnosis ; Nephritis, Hereditary/genetics ; Nephritis, Hereditary/pathology ; Collagen Type IV/genetics ; Collagen Type IV/metabolism ; Mutation ; Exons ; RNA Splicing
Chemical Substances	Collagen Type IV
Language	English
Publishing date	2023-05-23
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	120573-0
ISSN	1523-1755 ; 0085-2538
ISSN (online)	1523-1755
ISSN	0085-2538
DOI	10.1016/j.kint.2023.05.006
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Article ; Online: Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Jordan, Penelope / Arrondel, Christelle / Bessières, Bettina / Tessier, Aude / Attié-Bitach, Tania / Guterman, Sarah / Morinière, Vincent / Antignac, Corinne / Saunier, Sophie / Gubler, Marie-Claire / Heidet, Laurence

Kidney international

2020 Volume 99, Issue 2, Page(s) 405–409

Abstract: DNAJB11 (DnaJ Heat Shock Protein Family (Hsp40) Member B11) heterozygous loss of function variations have been reported in autosomal dominant cystic kidney disease with extensive fibrosis, associated with maturation and trafficking defect involving both ... ...

Abstract	DNAJB11 (DnaJ Heat Shock Protein Family (Hsp40) Member B11) heterozygous loss of function variations have been reported in autosomal dominant cystic kidney disease with extensive fibrosis, associated with maturation and trafficking defect involving both the autosomal dominant polycystic kidney disease protein polycystin-1 and the autosomal dominant tubulointerstitial kidney disease protein uromodulin. Here we show that biallelic pathogenic variations in DNAJB11 lead to a severe fetal disease including enlarged cystic kidneys, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome. Cysts of the kidney were developed exclusively from uromodulin negative tubular segments. In addition, tubular cells from the affected kidneys had elongated primary cilia, a finding previously reported in ciliopathies. Thus, our data show that the recessive disease associated with DNAJB11 variations is a ciliopathy rather than a disease of the autosomal dominant tubulointerstitial kidney disease spectrum, and prompt screening of DNAJB11 in fetal hyperechogenic/cystic kidneys.
MeSH term(s)	Abnormalities, Multiple ; HSP40 Heat-Shock Proteins ; Humans ; Kidney/abnormalities ; Kidney/diagnostic imaging ; Liver/abnormalities ; Pancreas/abnormalities ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant/complications ; Polycystic Kidney, Autosomal Dominant/genetics
Chemical Substances	DNAJB11 protein, human ; HSP40 Heat-Shock Proteins
Language	English
Publishing date	2020-10-28
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	120573-0
ISSN	1523-1755 ; 0085-2538
ISSN (online)	1523-1755
ISSN	0085-2538
DOI	10.1016/j.kint.2020.09.029
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Article ; Online: QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.

Jávorszky, Eszter / Morinière, Vincent / Kerti, Andrea / Balogh, Eszter / Pikó, Henriett / Saunier, Sophie / Karcagi, Veronika / Antignac, Corinne / Tory, Kálmán

Clinical chemistry and laboratory medicine

2017 Volume 55, Issue 6, Page(s) 809–816

Abstract: Background: Nephronophthisis, an autosomal recessive nephropathy, is responsible for 10% of childhood chronic renal failure. The deletion of its major gene, NPHP1, with a minor allele frequency of 0.24% in the general population, is the most common ... ...

Abstract	Background: Nephronophthisis, an autosomal recessive nephropathy, is responsible for 10% of childhood chronic renal failure. The deletion of its major gene, NPHP1, with a minor allele frequency of 0.24% in the general population, is the most common mutation leading to a monogenic form of childhood chronic renal failure. It is challenging to detect it in the heterozygous state. We aimed to evaluate the sensitivity and the specificity of the quantitative multiplex PCR of short fluorescent fragments (QMPSF) in its detection. Methods: After setting up the protocol of QMPSF, we validated it on 39 individuals diagnosed by multiplex ligation-dependent probe amplification (MLPA) with normal NPHP1 copy number (n=17), with heterozygous deletion (n=13, seven parents and six patients), or with homozygous deletion (n=9). To assess the rate of the deletions that arise from independent events, deleted alleles were haplotyped. Results: The results of QMPSF and MLPA correlated perfectly in the identification of 76 heterozygously deleted and 56 homozygously deleted exons. The inter-experimental variability of the dosage quotient obtained by QMPSF was low: control, 1.05 (median; range, 0.86-1.33, n = 102 exons); heterozygous deletion, 0.51 (0.42-0.67, n = 76 exons); homozygous deletion, 0 (0-0, n = 56 exons). All patients harboring a heterozygous deletion were found to carry a hemizygous mutation. At least 15 out of 18 deletions appeared on different haplotypes and one deletion appeared de novo. Conclusions: The cost- and time-effective QMPSF has a 100% sensitivity and specificity in the detection of NPHP1 deletion. The potential de novo appearance of NPHP1 deletions makes its segregation analysis highly recommended in clinical practice.
MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; Base Sequence ; Exons/genetics ; Gene Deletion ; Heterozygote ; Humans ; Kidney Diseases, Cystic/congenital ; Kidney Diseases, Cystic/genetics ; Limit of Detection ; Membrane Proteins/genetics ; Polymerase Chain Reaction/methods
Chemical Substances	Adaptor Proteins, Signal Transducing ; Membrane Proteins ; NPHP1 protein, human
Language	English
Publishing date	2017-05-01
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1418007-8
ISSN	1437-4331 ; 1434-6621 ; 1437-8523
ISSN (online)	1437-4331
ISSN	1434-6621 ; 1437-8523
DOI	10.1515/cclm-2016-0819
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Article: What is the risk that I will transmit nephrotic syndrome to my children, Doctor?

Benoit, Geneviève / Morinière, Vincent / Charbit, Marina / Niaudet, Patrick / Antignac, Corinne

NDT plus

2010 Volume 3, Issue 4, Page(s) 402–404

Language	English
Publishing date	2010-06-08
Publishing country	England
Document type	Journal Article
ZDB-ID	2410383-4
ISSN	1753-0784
ISSN	1753-0784
DOI	10.1093/ndtplus/sfq095
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