Rathika Mallepaly, Peter R Butler, A. Herati, D. Lamb
Male and female infertility affects close to 50 million couples worldwide according to a recent World Health Organization estimate. Many of the 25-30% of couples with idiopathic infertility likely have a genetic etiology for their condition. Next-generation sequencing has identified many new putative causes of infertility in recent years, which are discussed in this chapter. Genetic and genomic causes of infertility can be divided into cytogenetic anomalies, gene defects, and epigenetic aberrances. The discussion of male infertility focuses on genetic factors impairing spermatogenesis and includes numerical chromosomal anomalies such as Klinefelter syndrome, structural chromosomal anomalies such as Y-chromosome microdeletions, certain single gene mutations, syndromic diseases, and epigenetic mutations. The discussion of female infertility includes chromosomal anomalies like Turner syndrome, as well as genetic and epigenetic mutations identified as causes of hypogonadotropic hypogonadism, premature ovarian insufficiency, endometriosis, and polycystic ovarian syndrome. In conclusion, new genetic testing methods have significantly advanced our knowledge of the genetic basis of male and female infertility. However, the list of known candidate abnormalities is not exhaustive, and further research is required to understand how each candidate mutation influences fertility.
{"title":"Genetic Basis of Male and Female Infertility","authors":"Rathika Mallepaly, Peter R Butler, A. Herati, D. Lamb","doi":"10.1159/000477275","DOIUrl":"https://doi.org/10.1159/000477275","url":null,"abstract":"Male and female infertility affects close to 50 million couples worldwide according to a recent World Health Organization estimate. Many of the 25-30% of couples with idiopathic infertility likely have a genetic etiology for their condition. Next-generation sequencing has identified many new putative causes of infertility in recent years, which are discussed in this chapter. Genetic and genomic causes of infertility can be divided into cytogenetic anomalies, gene defects, and epigenetic aberrances. The discussion of male infertility focuses on genetic factors impairing spermatogenesis and includes numerical chromosomal anomalies such as Klinefelter syndrome, structural chromosomal anomalies such as Y-chromosome microdeletions, certain single gene mutations, syndromic diseases, and epigenetic mutations. The discussion of female infertility includes chromosomal anomalies like Turner syndrome, as well as genetic and epigenetic mutations identified as causes of hypogonadotropic hypogonadism, premature ovarian insufficiency, endometriosis, and polycystic ovarian syndrome. In conclusion, new genetic testing methods have significantly advanced our knowledge of the genetic basis of male and female infertility. However, the list of known candidate abnormalities is not exhaustive, and further research is required to understand how each candidate mutation influences fertility.","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"21 1","pages":"1-16"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000477275","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65273288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The establishment of a robust and reliable culture system to study the differentiation of male germ cells in vitro has been a topic in developmental biology and reproductive medicine for over 100 years. Although successful approaches resulting in full mammalian spermatogenesis have been developed for mice, development of a system to elucidate details of the complex process of spermatogenesis in humans is still needed. A huge variety of strategies employing different types of cells, cultured in different conditions, have been investigated so far. However, mostly because of limited access to human gonadal material from healthy donors, crucial information necessary to establish a functioning system remains missing. To picture the current status of information on human spermatogenesis in vitro, this short review mainly focuses on articles published over the last decade. However, important articles published before 2006 have also been included in the absence of more recent studies. A literature search was conducted, including articles written in English and German, cited in PubMed, and references identified in articles, with the focus on in vitro spermatogenesis and its clinical implication for paediatric oncology and haematology patients subjected to gonadotoxic anticancer treatments.
{"title":"In vitro Spermatogenesis and Its Potential Clinical Implication for Patients","authors":"J. Stukenborg, K. Jahnukainen","doi":"10.1159/000477285","DOIUrl":"https://doi.org/10.1159/000477285","url":null,"abstract":"The establishment of a robust and reliable culture system to study the differentiation of male germ cells in vitro has been a topic in developmental biology and reproductive medicine for over 100 years. Although successful approaches resulting in full mammalian spermatogenesis have been developed for mice, development of a system to elucidate details of the complex process of spermatogenesis in humans is still needed. A huge variety of strategies employing different types of cells, cultured in different conditions, have been investigated so far. However, mostly because of limited access to human gonadal material from healthy donors, crucial information necessary to establish a functioning system remains missing. To picture the current status of information on human spermatogenesis in vitro, this short review mainly focuses on articles published over the last decade. However, important articles published before 2006 have also been included in the absence of more recent studies. A literature search was conducted, including articles written in English and German, cited in PubMed, and references identified in articles, with the focus on in vitro spermatogenesis and its clinical implication for paediatric oncology and haematology patients subjected to gonadotoxic anticancer treatments.","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"21 1","pages":"162-172"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000477285","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65273361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The development of spermatozoa from primordial germ cells (PGCs) involves the transition of the genome through a program of sequential epigenetic events, resulting in the genome-wide erasure and subse
{"title":"The Epigenetics of Sperm Chromatin","authors":"Monis B. Shamsi, L. Simon, D. Carrell","doi":"10.1159/000477282","DOIUrl":"https://doi.org/10.1159/000477282","url":null,"abstract":"The development of spermatozoa from primordial germ cells (PGCs) involves the transition of the genome through a program of sequential epigenetic events, resulting in the genome-wide erasure and subse","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"21 1","pages":"116-127"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000477282","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65273348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tremendous progress has been made over the past 25 years in identifying genes responsible for nonsyndromic or syndromic deafness. However, clinical challenges remain that limit the number of patients
{"title":"Clinical Challenges in Diagnosing the Genetic Etiology of Hearing Loss","authors":"A. Birkeland, M. Lesperance","doi":"10.1159/000444564","DOIUrl":"https://doi.org/10.1159/000444564","url":null,"abstract":"Tremendous progress has been made over the past 25 years in identifying genes responsible for nonsyndromic or syndromic deafness. However, clinical challenges remain that limit the number of patients","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"23 1","pages":"40-55"},"PeriodicalIF":0.0,"publicationDate":"2016-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000444564","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65047291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mental retardation (MR) has many different genetic causes, ranging from single gene to whole-chromosome changes. Some of the chromosomal changes underlying MR are recurrent submicroscopic deletions an
{"title":"The Importance of Genome Architecture in Mental Retardation","authors":"H. Mefford","doi":"10.1159/000287595","DOIUrl":"https://doi.org/10.1159/000287595","url":null,"abstract":"Mental retardation (MR) has many different genetic causes, ranging from single gene to whole-chromosome changes. Some of the chromosomal changes underlying MR are recurrent submicroscopic deletions an","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"18 1","pages":"43-56"},"PeriodicalIF":0.0,"publicationDate":"2010-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000287595","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65137573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genetics research is being transformed by the advent of novel technologies, allowing the pathogenesis of more complex diseases to be understood. These developments are being applied to every field of
新技术的出现正在改变遗传学研究，使人们能够了解更复杂疾病的发病机制。这些发展正被应用于各个领域
{"title":"Translating Genetics Research into a National Health Service Clinical Diagnostic Environment","authors":"Jenny C. Taylor","doi":"10.1159/000287604","DOIUrl":"https://doi.org/10.1159/000287604","url":null,"abstract":"Genetics research is being transformed by the advent of novel technologies, allowing the pathogenesis of more complex diseases to be understood. These developments are being applied to every field of","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"18 1","pages":"151-161"},"PeriodicalIF":0.0,"publicationDate":"2010-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000287604","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65138259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The constitutional deletion of 22q13 is an example of a new microdeletion syndrome, known as the 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome, or Phelan-McDermid syndrome (OMIM #606232
{"title":"Chromosome 22q13 Rearrangements Causing Global Developmental Delay and Autistic Spectrum Disorder","authors":"M. Bonaglia, R. Giorda, R. Ciccone, O. Zuffardi","doi":"10.1159/000287603","DOIUrl":"https://doi.org/10.1159/000287603","url":null,"abstract":"The constitutional deletion of 22q13 is an example of a new microdeletion syndrome, known as the 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome, or Phelan-McDermid syndrome (OMIM #606232","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"18 1","pages":"137-150"},"PeriodicalIF":0.0,"publicationDate":"2010-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000287603","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65138018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The face and brain normally develop in a coordinated fashion under the influence of many genes. Hence, genetic anomalies disrupting early development can result both in cognitive impairment and facial
{"title":"3D Shape and Molecular Analyses of Facial Dysmorphology associated with Cognitive Impairment","authors":"P. Hammond, M. Tassabehji","doi":"10.1159/000287598","DOIUrl":"https://doi.org/10.1159/000287598","url":null,"abstract":"The face and brain normally develop in a coordinated fashion under the influence of many genes. Hence, genetic anomalies disrupting early development can result both in cognitive impairment and facial","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"18 1","pages":"77-88"},"PeriodicalIF":0.0,"publicationDate":"2010-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000287598","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65137907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neurofibromatosis 1 is a common condition with an autosomal dominant pattern of inheritance. Clinical management of patients with NF1 is complex due to the diversity of symptoms within patients. An
{"title":"Treatment and Management of Neurofibromatosis 1","authors":"V. Mautner, E. Boltshauser","doi":"10.1159/000126502","DOIUrl":"https://doi.org/10.1159/000126502","url":null,"abstract":"Neurofibromatosis 1 is a common condition with an autosomal dominant pattern of inheritance. \u0000Clinical management of patients with NF1 is complex due to the diversity of symptoms \u0000within patients. An","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"16 1","pages":"21-31"},"PeriodicalIF":0.0,"publicationDate":"2008-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000126502","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64588417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Bile Acid Synthesis and the Enterohepatic Circulation: Processes Regulating Total-Body Cholesterol Homeostasis","authors":"R. A. Davis, S. Dueland, J. Trawick","doi":"10.1159/000421515","DOIUrl":"https://doi.org/10.1159/000421515","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"14 1","pages":"208-227"},"PeriodicalIF":0.0,"publicationDate":"1992-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000421515","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64856243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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