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Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

作者信息

Jordan Penelope, Dorval Guillaume, Arrondel Christelle, Morinière Vincent, Tournant Carole, Audrezet Marie-Pierre, Michel-Calemard Laurence, Putoux Audrey, Lesca Gaethan, Labalme Audrey, Whalen Sandra, Loeuillet Laurence, Martinovic Jelena, Attie-Bitach Tania, Bessières Bettina, Schaefer Elise, Scheidecker Sophie, Lambert Laetitia, Beneteau Claire, Patat Olivier, Boute-Benejean Odile, Molin Arnaud, Guimiot Fabien, Fontanarosa Nicolas, Nizon Mathilde, Lefebvre Mathilde, Jeanpierre Cécile, Saunier Sophie, Heidet Laurence

机构信息

APHP Service de Génétique, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

Inserm U1163, Laboratoire des Maladies Rénales Héréditaires Institut Imagine, Université de Paris, Paris, France.

出版信息

Hum Mutat. 2022 Mar;43(3):347-361. doi: 10.1002/humu.24324. Epub 2022 Jan 10.


DOI:10.1002/humu.24324
PMID:35005812
Abstract

We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling. The percentage of variants explaining the phenotype was different according to the type of phenotype. The highest diagnostic yield was found in cases affected with the ciliopathy-like phenotype (11/15 families and, in addition, a single heterozygous or a homozygous Class 3 variant in PKHD1 in three unrelated cases with autosomal recessive polycystic kidney disease). The lowest diagnostic yield was observed in cases with congenital anomalies of the kidney and urinary tract (9/78 families and, in addition, Class 3 variants in GREB1L in three unrelated cases with bilateral renal agenesis). Inheritance was autosomal recessive in nine genes (PKHD1, NPHP3, CEP290, TMEM67, DNAJB11, FRAS1, ACE, AGT, and AGTR1), and autosomal dominant in six genes (PKD1, PKD2, PAX2, EYA1, BICC1, and MYOCD). Finally, we developed an original approach of next-generation sequencing targeted RNA sequencing using the custom capture panel used for the sequencing of DNA, to validate one MYOCD heterozygous splicing variant identified in two male siblings with megabladder and inherited from their healthy mother.

摘要

相似文献

[1]
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Hum Mutat. 2022-3

[2]
Biallelic Pathogenic Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

J Am Soc Nephrol. 2021-1

[3]
Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.

J Nephrol. 2021-6

[4]
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

Am J Hum Genet. 2017-11-2

[5]
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.

Pediatr Nephrol. 2019-5-11

[6]
Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.

Clin Genet. 2018-2-23

[7]
Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing.

Kidney Blood Press Res. 2018

[8]
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Am J Hum Genet. 2014-1-16

[9]
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.

PLoS One. 2020-6-23

[10]
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Am J Hum Genet. 2017-11-2

引用本文的文献

[1]
A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.

Mol Genet Genomic Med. 2025-6

[2]
Distribution and classifications of gene variants in a Turkish population using the next generation sequencing method.

Turk J Med Sci. 2024

[3]
The genetic etiologies of bilateral renal agenesis.

Prenat Diagn. 2024-2

[4]
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

Genes (Basel). 2023-11-27

[5]
Fetal renal cystic disease and post-natal follow up-a single center experience.

Front Pediatr. 2023-8-10

[6]
Gene Mutation in Pediatric Renal Disorders-A Narrative Review.

Int J Mol Sci. 2023-8-13

[7]
Neurogenic Defects Occur in -Associated Urinary Bladder Disease.

Kidney Int Rep. 2023-4-30

[8]
Bicaudal-C Post-transcriptional regulator of cell fates and functions.

Front Cell Dev Biol. 2022-9-7

[9]
Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract.

Front Pediatr. 2022-8-4

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