Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment

Purpose To develop and assess a novel custom next-generation sequencing (NGS) panel for male infertility genetic diagnosis. Methods A total of 241 subjects with diagnosis of idiopathic infertility ranging from azoospermia to normozoospermia were sequenced by a custom NGS panel including AR , FSHB ,...

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Bibliographic Details
Published in:Journal of assisted reproduction and genetics 2020-04, Vol.37 (4), p.753-762
Main Authors: Rocca, Maria Santa, Msaki, Aichi, Ghezzi, Marco, Cosci, Ilaria, Pilichou, Kalliopi, Celeghin, Rudy, Foresta, Carlo, Ferlin, Alberto
Format: Article
Language:English
Subjects:
Adult
Azoospermia - diagnosis
Azoospermia - genetics
Azoospermia - pathology
Cell Cycle Proteins - genetics
Diagnosis
DNA-Binding Proteins - genetics
Follicle-stimulating hormone
Gene Frequency
Genetic diversity
Genetic screening
Genetic Testing
Gynecology
High-Throughput Nucleotide Sequencing
Human Genetics
Humans
Infertility
Infertility, Male - diagnosis
Infertility, Male - genetics
Infertility, Male - pathology
Intracellular Signaling Peptides and Proteins - genetics
Male
Medicine
Medicine & Public Health
Mutation, Missense - genetics
Next-generation sequencing
Polymorphism, Single Nucleotide - genetics
Receptors, Androgen - genetics
Receptors, FSH - genetics
Reproductive Medicine
RNA-Binding Proteins - genetics
Septins - genetics
Steroidogenic Factor 1 - genetics
Technological Innovations
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Summary:Purpose To develop and assess a novel custom next-generation sequencing (NGS) panel for male infertility genetic diagnosis. Methods A total of 241 subjects with diagnosis of idiopathic infertility ranging from azoospermia to normozoospermia were sequenced by a custom NGS panel including AR , FSHB , FSHR , KLHL10 , NR5A1 , NANOS1 , SEPT12 , SYCP3 , TEX11 genes. Variants with minor allele frequency
ISSN:1058-0468
1573-7330
DOI:10.1007/s10815-020-01747-0