Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population

Sismani, Carolina; Rapti, Stamatia-Maria; Iliopoulou, Pavlina; Spring, Anastasia; Neroutsou, Rozalia; Lagou, Magdalini; Robola, Marianna; Tsitsopoulos, Efstathios; Kousoulidou, Ludmila; Alexandrou, Angelos; Papaevripidou, Ioannis; Theodosiou, Athina; Syrrou, Maria; Fuchs, Sigrid; Hempel, Maja; Huhle, Dagmar; Liehr, Thomas; Ziegler, Monika; Duesberg, Max; Velissariou, Voula

doi:10.1038/s10038-020-0769-z

Cited by 8 publications

(7 citation statements)

References 23 publications

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“…[ 14 ] Another recent study has reported a novel pericentric inversion inv (9) (p23q22.3) in infertile individuals from Southeast Europe. [ 15 ] Despite being benign, pericentric inversions may affect the reproductive outcomes of carrier males by increasing the risk for chromosome abnormalities in live-born offspring, miscarriages, and fertility issues. [ 15 ]…”

Section: Hromosome N Umber and S Tructural A Nomaliesmentioning

confidence: 99%

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Genetics of Male Infertility – Present and Future

Sudhakar

Shah

Gajbhiye

2021

Journal of Human Reproductive Sciences

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Infertility affects 8%–12% of couples worldwide with a male factor contributing to nearly 50% of couples either as a primary or contributing cause. Several genetic factors that include single-gene and multiple-gene defects associated with male infertility were reported in the past two decades. However, the etiology remains ambiguous in a majority of infertile men (~40%). The objective of this narrative review is to provide an update on the genetic factors associated with idiopathic male infertility and male reproductive system abnormalities identified in the last two decades. We performed a thorough literature search in online databases from January 2000 to July 2021. We observed a total of 13 genes associated with nonobstructive azoospermia due to maturation/meiotic arrest. Several studies that reported novel genes associated with multiple morphological abnormalities of the sperm flagella are also discussed in this review. ADGRG2 , PANK2 , SCNN1B , and CA12 genes are observed in non- CFTR- related vas aplasia. The genomic analysis should be quickly implemented in clinical practice as the detection of gene abnormalities in different male infertility phenotypes will facilitate genetic counseling.

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Section: Hromosome N Umber and S Tructural A Nomaliesmentioning

confidence: 99%

“…[ 15 ] Despite being benign, pericentric inversions may affect the reproductive outcomes of carrier males by increasing the risk for chromosome abnormalities in live-born offspring, miscarriages, and fertility issues. [ 15 ]…”

Section: Hromosome N Umber and S Tructural A Nomaliesmentioning

confidence: 99%

Genetics of Male Infertility – Present and Future

Sudhakar

Shah

Gajbhiye

2021

Journal of Human Reproductive Sciences

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“…Structural abnormalities may affect spermatogenesis and are closely associated with male infertility [ 8 ]. Inversion is an important structural aberration and has been proven to be associated with male infertility [ 8 , 9 , 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

“…However, recent studies have shown that PGD cannot provide the same prominent benefits for inversion carriers in the Chinese Han population [ 14 ]. Moreover, a few cases of familial pericentric inversion have been reported [ 9 , 15 , 16 ]. Although these inversion carriers have a history of adverse pregnancy, they can still conceive naturally.…”

Section: Introductionmentioning

confidence: 99%

Pericentric inversion of chromosome 6 and male fertility problems

et al. 2022

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As a significant chromosomal structural abnormality, chromosomal inversion is closely related to male infertility. For inversion carriers, the interchromosomal effect explains male infertility, but its specific mechanism remains unclear. Additionally, inversion carriers with different chromosomes have different clinical manifestations. Therefore, genetic counseling is difficult in clinical practice. Herein, four male carriers of pericentric inversion in chromosome 6 have been described. Two patients showed asthenospermia, one showed azoospermia, and the wife of the remaining patient had recurrent miscarriages. Through a literature search, the association between the breakpoint of pericentric inversion in chromosome 6 and male fertility problems are also discussed in this study. Overall, important genes related to asthenospermia in chromosome 6p21 were found, which may be related to the clinical phenotype. These results suggest that physicians should focus on the breakpoints of inversion in genetic counseling.

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“…Frequent pericentric inversions reported in chromosomes 1, 2, 3, 5, 9, 10, and 16 involve only heterochromatic DNA [ 13 ]. In particular, a pericentric inversion of chromosome 9 is found with a frequency of 1–2% in the general human population [ 14 ]. In general, inversions have been traditionally considered neutral and usually appear to have no apparent phenotypic consequences apart from fertility effects due to an increased risk for miscarriages [ 4 , 14 ].…”

Section: Introductionmentioning

confidence: 99%

Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts

Damián

Ionescu

Alba

et al. 2021

IJMS

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Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases. Mutations in the NHS gene cause Nance-Horan syndrome, an X-linked disorder characterised by congenital cataracts and dental anomalies. Here, we aimed to characterise a balanced pericentric inversion X(p22q27), maternally inherited, in a child with syndromic bilateral cataracts by breakpoint mapping using whole-genome sequencing (WGS). 30× Illumina paired-end WGS was performed in the proband, and breakpoints were confirmed by Sanger sequencing. EdU assays and FISH analysis were used to assess skewed X-inactivation patterns. RNA expression of involved genes in the breakpoint boundaries was evaluated by droplet-digital PCR. We defined the breakpoint position of the inversion at Xp22.13, with a 15 bp deletion, disrupting the unusually large intron 1 of the canonical NHS isoform, and also perturbing topologically-associated domains (TADs). Moreover, a microhomology region of 5 bp was found on both sides. RNA analysis confirmed null and reduced NHS expression in the proband and his unaffected mother, respectively. In conclusion, we report the first chromosomal inversion disrupting NHS, fine-mapped by WGS. Our data expand the clinical spectrum and the pathogenic mechanisms underlying the NHS defects.

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Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population

Cited by 8 publications

References 23 publications

Genetics of Male Infertility – Present and Future

Genetics of Male Infertility – Present and Future

Pericentric inversion of chromosome 6 and male fertility problems

Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts

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