A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect
Yazar
Selçuk, Bilge Şadan
Uyguner, Zehra Oya
Karaman, Birsen
Toksoy, Güven
Başaran, Seher
Berkay, Ezgi Gizem
Üst veri
Tüm öğe kaydını gösterÖzet
Introduction: Oocyte maturation defect (OOMD) is a rare condition causing female infertility that can be
diagnosed during assisted reproduction techniques (ART). OOMD related genes are ZP1, ZP2, ZP3, PANX1, PATL2,
TUBB8, WEE2 (OMIM, 2020). We report a case of a 31-year-old woman who had four ART failures diagnosed as
empty follicle syndrome and OOMD. She has short stature (-3 SD), bilateral limited extension-exion on elbows.
Materials and Methods: Chromosome analysis and uorescence in-situ hybridization (FISH) using X
chromosome centromeric and SHOX-probe on interphase nuclei of lymphocytes and mucosal cells was
investigated. Whole-exome sequencing (WES) performed via the Illumina platform. Conrmation and familial
segregation analysis were performed by Sanger sequencing. Results: Karyotyping and FISH resulted in normal,
possible mosaicism was excluded. WES analysis revealed a known, rare, pathogenic homozygous variant in exon 3
(c.628C>T; p.Q210*) of ZP1 gene, and her parents being rst degree cousins were carriers for this variant.
Conclusions: ZP1 with autosomal recessive inheritance is related to OOMD-1 (MIM_615774). Zona pellucida (ZP) is
a glycoprotein structure surrounding oocytes and is essential for oocyte development. ZP contains four types of
receptor proteins (ZP1-4). Our variant in ZP1 is nonsense, premature stop codon causes to truncate ZP1 receptor
proteins. This is the rst homozygous occurrence of this variant associated with OOMD. WES ndings were also
analyzed for known genes related to short stature and no pathogenic variant has been observed. WES is a valuable
method to identify the genetic origin in complex, multigenic conditions like in infertility.Istanbul University ProjectNumber:TSA-2018-32135
Koleksiyonlar
- Bildiri [64839]