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    A novel variant in TLE6 is associated with embryonic developmental arrest (EDA) in familial female infertility

    , Article Scientific Reports ; Volume 12, Issue 1 , 2022 ; 20452322 (ISSN) Akbari, M ; Mohebi, M ; Berjis, K ; Ghahremani, A ; Modarresi, M. H ; Ghafouri Fard, S ; Sharif University of Technology
    Nature Research  2022
    This study aims to identify genetic causes of familial female infertility characterized by embryonic developmental arrest (EDA) and repeated implantation failure (RIF) with oocyte donation IVF cycle. We used Whole-exome sequencing and Sanger validation to find causative genes in an Iranian consanguineous family that had 3 infertile daughters, 4 fertile daughters, and 2 fertile sons. All patients in this consanguineous family exhibited typical manifestations of unexplained RIF and EDA. Genetic analysis identified a homozygous missense variant (c.G1054C:p.G352R) in exon 13 of the TLE6 gene that cosegregated with the EDA phenotype in an autosomal recessive pattern. Other members of the family,... 

    Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans

    , Article American Journal of Human Genetics ; Volume 108, Issue 2 , 2021 , Pages 324-336 ; 00029297 (ISSN) Fan, S ; Jiao, Y ; Khan, R ; Jiang, X ; Javed, A. R ; Ali, A ; Zhang, H ; Zhou, J ; Naeem, M ; Murtaza, G ; Li, Y ; Yang, G ; Zaman, Q ; Zubair, M ; Guan, H ; Zhang, X ; Ma, H ; Jiang, H ; Ali, H ; Dil, S ; Shah, W ; Ahmad, N ; Zhang, Y ; Shi, Q ; Sharif University of Technology
    Cell Press  2021
    Human infertility is a multifactorial disease that affects 8%–12% of reproductive-aged couples worldwide. However, the genetic causes of human infertility are still poorly understood. Synaptonemal complex (SC) is a conserved tripartite structure that holds homologous chromosomes together and plays an indispensable role in the meiotic progression. Here, we identified three homozygous mutations in the SC coding gene C14orf39/SIX6OS1 in infertile individuals from different ethnic populations by whole-exome sequencing (WES). These mutations include a frameshift mutation (c.204_205del [p.His68Glnfs∗2]) from a consanguineous Pakistani family with two males suffering from non-obstructive...