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Article

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect

1
Institut de Parasitologie et Pathologie Tropicale, EA 7292, Fédération de Médecine Translationelle (IPPTS), Université de Strasbourg, 3 rue Koeberlé, 67000 Strasbourg, France
2
Laboratoire de Diagnostic Génétique, UF3472-génétique de l’infertilité, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France
3
Memorial Atasehir Hospital, In Vitro Fertilization (IVF) Andrology and Genetics Center, Kucukbakkalkoy mh.Vedat Gunyol cd No:28-30, 34758 Atasehir/Istanbul, Turkey
4
Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de Santé et de Recherche Médicale (INSERM), U964/Centre National de Recherche Scientifique (CNRS) UMR 7104, Université de Strasbourg, 67404 Illkirch, France
5
Hibrigen Biotechnology R&D Industry and Trade Ltd. Co.,Tubitak MAM Teknoloji Serbest Bolgesi, Baris SB Mh 5002.sk Yeni Tek. Binasi ABlok 4, A/101 Gebze/Kocaeli, Turkey
6
Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France
7
Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France
*
Author to whom correspondence should be addressed.
Genes 2020, 11(4), 382; https://doi.org/10.3390/genes11040382
Received: 10 February 2020 / Revised: 24 March 2020 / Accepted: 26 March 2020 / Published: 1 April 2020
(This article belongs to the Special Issue Genetic Aspects of Female Infertility)
In vitro fertilization (IVF) involves controlled ovarian hyperstimulation using hormones to produce large numbers of oocytes. The success of IVF is tightly linked to the availability of mature oocytes. In most cases, about 70% to 80% of the oocytes are mature at the time of retrieval, however, in rare instances, all of them may be immature, implying that they were not able to reach the metaphase II (MII) stage. The failure to obtain any mature oocytes, despite a well conducted ovarian stimulation in repeated cycles is a very rare cause of primary female infertility, for which the underlying suspected genetic factors are still largely unknown. In this study, we present the whole exome sequencing analysis of a consanguineous Turkish family comprising three sisters with a recurrent oocyte maturation defect. Analysis of the data reveals a homozygous splice site mutation (c.1775-3C>A) in the zona pellucida glycoprotein 1 (ZP1) gene. Minigene experiments show that the mutation causes the retention of the intron 11 sequence between exon 11 and exon 12, resulting in a frameshift and the likely production of a truncated protein. View Full-Text
Keywords: immature oocytes; oocyte maturation defect; female infertility immature oocytes; oocyte maturation defect; female infertility
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MDPI and ACS Style

Okutman, Ö.; Demirel, C.; Tülek, F.; Pfister, V.; Büyük, U.; Muller, J.; Charlet-Berguerand, N.; Viville, S. Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect. Genes 2020, 11, 382. https://doi.org/10.3390/genes11040382

AMA Style

Okutman Ö, Demirel C, Tülek F, Pfister V, Büyük U, Muller J, Charlet-Berguerand N, Viville S. Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect. Genes. 2020; 11(4):382. https://doi.org/10.3390/genes11040382

Chicago/Turabian Style

Okutman, Özlem, Cem Demirel, Firat Tülek, Veronique Pfister, Umut Büyük, Jean Muller, Nicolas Charlet-Berguerand, and Stéphane Viville. 2020. "Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect" Genes 11, no. 4: 382. https://doi.org/10.3390/genes11040382

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