Autosomal single-gene disorders involved in human infertility

被引:17
|
作者
Jedidi, Ines [1 ]
Ouchari, Mouna [2 ]
Yin, Qinan [2 ,3 ]
机构
[1] Fac Med Sousse, Mohamed El Karoui St, Sousse 4002, Tunisia
[2] NIH, Ctr Clin, Bethesda, MD 20892 USA
[3] China Meitan Gen Hosp, Dept Obstet & Gynecol, Beijing, Peoples R China
关键词
Human infertility; Single-gene mutation; Autosomal gene; Recessive; Dominant; GONADOTROPIN-RELEASING-HORMONE; METHYLENETETRAHYDROFOLATE REDUCTASE GENE; ENCODING STEROIDOGENIC FACTOR-1; SRY-RELATED GENE; SEX REVERSAL; CAMPOMELIC DYSPLASIA; HYPOGONADOTROPIC HYPOGONADISM; RECEPTOR GENE; WILMS-TUMOR; COMMON MUTATION;
D O I
10.1016/j.sjbs.2017.12.005
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Human infertility, defined as the inability to conceive after 1 year of unprotected intercourse, is a healthcare problem that has a worldwide impact. Genetic causes of human infertility are manifold. In addition to the chromosomal aneuploidies and rearrangements, single-gene defects can interfere with human fertility. This paper provides a review of the most common autosomal recessive and autosomal dominant single-gene disorders involved in human infertility. The genes reviewed are CFTR, SPATA16, AURKC, CATSPER1, GNRHR, MTHFR, SYCP3, SOX9, WT1 and NR5A1 genes. These genes may be expressed throughout the hypothalamic-pituitary-gonadal-outflow tract axis, and the phenotype of affected individuals varies considerably from varying degrees of spermatogenic dysfunction leading to various degrees of reduced sperm parameters, through hypogonadotropic hypogonadism reslting in pubertal deficiencies, until gonadal dysgenesis and XY and XX sex reversal. Furthermore, congenital bilateral absence of the vas deferens, as well as premature ovarian failure, have been reported to be associated with some single-gene defects. (C) 2017 The Authors.
引用
收藏
页码:881 / 887
页数:7
相关论文
共 50 条
  • [41] Reflex single-gene non-invasive prenatal testing is associated with markedly better detection of fetuses affected with single-gene recessive disorders at lower cost
    Riku, Shan
    Hedriana, Herman
    Carozza, Jacqueline A.
    Hoskovec, Jennifer
    JOURNAL OF MEDICAL ECONOMICS, 2022, 25 (01) : 403 - 411
  • [42] Comparative sequence analysis of a single-gene conserved segment in mouse and human
    Thomas, JW
    Green, ED
    MAMMALIAN GENOME, 2003, 14 (10) : 673 - 678
  • [43] Single-gene influences on brain and behavior
    Wahlsten, D
    ANNUAL REVIEW OF PSYCHOLOGY, 1999, 50 : 599 - 624
  • [44] Recent Advances in RNA Therapy and Its Carriers to Treat the Single-Gene Neurological Disorders
    Lee, Ming-Jen
    Lee, Inyoul
    Wang, Kai
    BIOMEDICINES, 2022, 10 (01)
  • [45] Comparative sequence analysis of a single-gene conserved segment in mouse and human
    James W. Thomas
    Mammalian Genome, 2003, 14 : 673 - 678
  • [46] First-trimester sonographic detection of neurodevelopmental abnormalities in some single-gene disorders
    VanZalenSprock, RM
    VanVugt, JMG
    VanGeijn, HP
    PRENATAL DIAGNOSIS, 1996, 16 (03) : 199 - 202
  • [47] Non-invasive prenatal diagnosis of single-gene disorders from maternal blood
    Bustamante-Aragones, Ana
    Rodriguez de Alba, Marta
    Perlado, Sara
    Jose Trujillo-Tiebas, Maria
    Plaza Arranz, Javier
    Diaz-Recasens, Joaquin
    Troyano-Luque, Juan
    Ramos, Carmen
    GENE, 2012, 504 (01) : 144 - 149
  • [48] Single-Gene Determinants of Epilepsy Comorbidity
    Noebels, Jeffrey L.
    COLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2015, 5 (11):
  • [50] Say YES to single-gene lysis!
    Nabhani, Ali
    Morehouse, Benjamin R.
    CELL HOST & MICROBE, 2023, 31 (09) : 1420 - 1422