دورية
Homozygous variants in SYCP2Lcause premature ovarian insufficiency
| العنوان: | Homozygous variants in SYCP2Lcause premature ovarian insufficiency |
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| المؤلفون: | He, Wen-Bin, Tan, Chen, Zhang, Ya-Xin, Meng, Lan-Lan, Gong, Fei, Lu, Guang-Xiu, Lin, Ge, Du, Juan, Tan, Yue-Qiu |
| المصدر: | Journal of Medical Genetics (JMG); 2021, Vol. 58 Issue: 3 p168-172, 5p |
| مستخلص: | BackgroundThe genetic causes of the majority of cases of female infertility caused by premature ovarian insufficiency (POI) are unknown.ObjectiveTo identify the genetic causes of POI in 110 patients.MethodsWhole-exome sequencing was performed on 110 patients with POI, and putative disease-causative variants were validated by Sanger sequencing. Bioinformatic and in vitro functional analyses were performed for functional characterisation of the identified candidate disease-causative variants.ResultsWe identified two homozygous variants (NM_001040274: c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2Lin two patients, which had co-segregated with POI in these families. Bioinformatic analysis predicted that the two variants are deleterious, and in vitro functional analysis showed that mutant SYCP2L proteins exhibited mislocalisation and loss of function.ConclusionsSYCP2Lis a novel gene found to be responsible for human POI. Our findings provide a potential molecular marker for POI and improve the understanding of the genetic basis of female infertility. |
| قاعدة البيانات: | Supplemental Index |
Full Text Finder | تدمد: | 00222593 14686244 |
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| DOI: | 10.1136/jmedgenet-2019-106789 |