Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport
In this study, whole-exome sequencing was performed to identify the causative genes in ten unrelated infertile patients with PCD: seven males and three females. Notably, homozygous frameshift mutations in MCIDAS (c.186dupT, p.Pro63Serfs*22) and CCNO (c.262_263insGGCCC, p.Gln88Argfs*8) were identified in one male and one female participant from two unrelated consanguineous families. Haematoxylin-eosin staining/scanning electron microscopy revealed abnormal MCCs in the mutated EDs/oviducts. Furthermore, transmission electron microscopy revealed significantly reduced BBs. Immunofluorescence staining showed the absence of MCIDAS and CCNO signals in the affected tissues and confirmed that MCIDAS acts upstream of CCNO in the context of multiciliogenesis in the reproductive tract epithelium. In vitro fertilisation (IVF)/intracytoplasmic sperm injection (ICSI) was successful, with a positive pregnancy outcome in both MCIDAS- and CCNO-mutated patients. Our results support the use of IVF/ICSI interventions to treat infertility due to RGMC in couples.PMID:34569065 | DOI:10.1111/cge.14067
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Cong Ma Huan Wu Damin Zhu Ying Wang Qunshan Shen Huiru Cheng Junqiang Zhang Hao Geng Yiyuan Liu Xiaojin He Fangbiao Tao Yunxia Cao Xiaofeng Xu Source Type: research
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