Pericentric inversion of chromosom 12 [Inv (12) (p12q12)] associated with idiopathic azoospermia in one infertile Tunisian man

Ghorbel, Myriam; Baklouti-Gargouri, Siwar; ElGhazel, H.; Zribi, Nacira; Abdallah, Ferjani Ben; Cherif, Meriem; Fakhfakh, Faïza; Saâd, Ali; Keskes, Leila

doi:10.1016/j.bbrc.2013.01.110

Cited by 6 publications

(4 citation statements)

References 18 publications

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“…On the 12q12 locus, there are three genes expressed in the testis: AT-Rich Interaction Domain-Containing Protein 2 (ARID2), A Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif 20 (ADAMTS20), and Twinfilin Drosophila Homolog of 1 (TWF1) (Ghorbel et al, 2013). The CNVs of patient No.…”

Section: Discussionmentioning

confidence: 99%

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Dong¹,

Pan²,

Wang³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Male infertility is mostly caused by spermatogenic failure. Currently, routine genetic analyses of unexplained azoospermia or oligozoospermia are limited to the investigation of Y chromosomal microdeletions and chromosome karyotype analyses. The aim of this study was to find spermatogenic failure genes in patients with chromosomal abnormalities and unexplained azoospermia caused by copy number variations in order to provide a theoretical basis for further research. Spermatogenic failure patients consisting of 13 males with chromosomal abnormalities and 20 with unexplained azoospermia were enrolled. The subjects underwent high-throughput genome-wide sequencing to find copy number variants (CNVs), and the results were analyzed using the Database of Genomic Variants, Online Mendelian Inheritance in Man database, and PubMed. The results showed that 16 CNVs were detected in 11 patients with chromosome abnormalities, and 26 CNVs were found in 16 males with azoospermia. Our data showed CNV-involved loci including: three times on 11p11.12 and 14q11.2 and twice on 6p21.32, 13q11, 15q11.11, 16p12.2, 16042 Y. Dong et al.

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Section: Discussionmentioning

confidence: 99%

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Dong¹,

Pan²,

Wang³

et al. 2015

Genet. Mol. Res.

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“…To date, pericentric inversion 12 have been reported in twelve families in seven studies (Table 1). In one study, it has not been reported whether the inv( 12) is familial or de novo (22). In the current study, we report three familial pericentric inv (12).…”

Section: Discussionmentioning

confidence: 40%

Perisentrik inv(12)(p11.2q14)’nin İnfertilite ve Tekrarlayan Düşüklerle İlişkisi: Vaka Örneği ve Literatür Taraması

Kaya

Karataş

2019

Düzce Tıp Fakültesi Dergisi

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Infertility, reported in 15% of the couples who want to have children, is an important worldwide health problem. Recurrent miscarriage, observed in 15-25% of pregnancies, is another important health issue affecting millions of couples in the world. Despite many genetic factors have been associated with infertility or recurrent miscarriages especially in recent years, the genetic and epigenetic factors underlying these problems are mostly unknown. Most of the pericentric inversions do not affect phenotypes of the individuals carrying balanced rearrangements. However, the pericentric inversions may cause chromosomally unbalanced sperm/ovum during the meiotic crossover leading to infertility or recurrent miscarriages. In this case report, we report a familial pericentric inv(12)(p11.2q14) in eight individuals with infertility or recurrent miscarriages in three different families.

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“…Abnormalities associated with chromosome 7 and 12 have been reported before in patients with non-obstructive azoospermia, including a paracentric inversion of chromosome 7 and a pericentric inversion of chromosome 123435, and translocations involving chromosome 1236. However, none of these previously reported cases had breakpoints [inv (12) (p12q12); inv (7)(q22-31)] in common with our patient [inv(12)(p13.31q23.2), ins(7;12)(p21.3;q23.2q12)].…”

Section: Discussionmentioning

confidence: 67%

Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies

Mouka

Izard

Tachdjian

et al. 2017

Sci Rep

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Despite progress in human reproductive biology, the cause of male infertility often remains unknown, due to the lack of appropriate and convenient in vitro models of meiosis. Induced pluripotent stem cells (iPSCs) derived from the cells of infertile patients could provide a gold standard model for generating primordial germ cells and studying their development and the process of spermatogenesis. We report the characterization of a complex chromosomal rearrangement (CCR) in an azoospermic patient, and the successful generation of specific-iPSCs from PBMC-derived erythroblasts. The CCR was characterized by karyotype, fluorescence in situ hybridization and oligonucleotide-based array-comparative genomic hybridization. The CCR included five breakpoints and was caused by the inverted insertion of a chromosome 12 segment into the short arm of one chromosome 7 and a pericentric inversion of the structurally rearranged chromosome 12. Gene mapping of the breakpoints led to the identification of a candidate gene, SYCP3. Erythroblasts from the patient were reprogrammed with Sendai virus vectors to generate iPSCs. We assessed iPSC pluripotency by RT-PCR, immunofluorescence staining and teratoma induction. The generation of specific-iPSCs from patients with a CCR provides a valuable in vitro genetic model for studying the mechanisms by which chromosomal abnormalities alter meiosis and germ cell development.

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Pericentric inversion of chromosom 12 [Inv (12) (p12q12)] associated with idiopathic azoospermia in one infertile Tunisian man

Cited by 6 publications

References 18 publications

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Perisentrik inv(12)(p11.2q14)’nin İnfertilite ve Tekrarlayan Düşüklerle İlişkisi: Vaka Örneği ve Literatür Taraması

Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies

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