{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent whole‐exome sequencing efforts have expanded our understanding of the genetic underpinnings of male infertility. In particular, a study in a family with varicocele‐associated severe oligospermia identified a premature stop codon alteration in the X‐linked gene FAM47C. The affected brothers were hemizygous for this variant while their mother was a heterozygous carrier, implicating a loss‐of‐function effect in FAM47C that may disrupt normal spermatogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Although other studies have focused on alternative markers and genomic alterations in diverse reproductive and non‐reproductive contexts – such as the cell surface chaperone TEX101 critical for sperm maturation and migration"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", genetic variants implicated in congenital heart disease"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", genomic alterations in metastatic castrate‐resistant prostate cancer"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", and somatic mutations in colorectal cancer"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "– the identification of a deleterious FAM47C variant points to its specific role in the regulation of germ cell development and the maintenance of normal spermatogenic processes. \n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n These collective findings underscore the importance of detailed genomic analyses for revealing candidate genes, such as FAM47C, whose perturbation may contribute to impaired sperm production and infertility. Further functional studies are warranted to elucidate the precise molecular mechanisms by which FAM47C influences spermatogenesis.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Willy Chertman, Himanshu Arora, Anthony J Griswold, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Urology (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.urology.2019.03.016"}], "href": "https://doi.org/10.1016/j.urology.2019.03.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30922974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30922974"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Christina Schiza, Dimitrios Korbakis, Keith Jarvi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of TEX101-associated Proteins Through Proteomic Measurement of Human Spermatozoa Homozygous for the Missense Variant rs35033974."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Proteomics (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/mcp.RA118.001170"}], "href": "https://doi.org/10.1074/mcp.RA118.001170"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30429210"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30429210"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Lin Liu, Hong-Dan Wang, Cun-Ying Cui, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.22202"}], "href": "https://doi.org/10.18632/oncotarget.22202"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29291004"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29291004"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jelena Belic, Ricarda Graf, Thomas Bauernhofer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genomic alterations in plasma DNA from patients with metastasized prostate cancer receiving abiraterone or enzalutamide."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Cancer (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ijc.31397"}], "href": "https://doi.org/10.1002/ijc.31397"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29574703"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29574703"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Hongfei Teng, Renyuan Gao, Nan Qin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of recurrent and novel mutations by whole‑genome sequencing of colorectal tumors from the Han population in Shanghai, eastern China."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2018.9563"}], "href": "https://doi.org/10.3892/mmr.2018.9563"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30365144"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30365144"}]}]}]}