Dear Editor,Infertility affects about 15%of couples of childbearing age.i About half of these cases can be attributed predominantly to a male factor,such as a quantitative or qualitative impairment in spermatogenesis....Dear Editor,Infertility affects about 15%of couples of childbearing age.i About half of these cases can be attributed predominantly to a male factor,such as a quantitative or qualitative impairment in spermatogenesis.The etiology of male infertility is related to anatomic,genetic,and environmental causes,being sometimes multifactorial and of unknown or idiopathic origins.At present,genetic screening for nonobstructive azoospermia(NOA)is generally limited to karyotyping for the identification of chromosome abnormalities such as 47,XXY,46,X,der(X)t(X;Y)(p22.3;p11.2),chromosome rearrangements,and Y chromosome microdeletions.Whole-genome analyses have shown that over 100 gene variants are associated with a male infertility phenotype,and the list continues to grow;hence,a large number of genes are involved in spermatogenesis.The continuing identification of genes responsible for male infertility in general and azoospermia,in particular,is a major challenge in both research and the diagnosis ofmale infertility.展开更多
Exome sequencing(ES)generates secondary findings(SFs)in 2%of tested individuals if one follows the American College of Medical Genetics and Genomics(ACMG)guide-lines.i,z2 However,the rate of incidental and secondary f...Exome sequencing(ES)generates secondary findings(SFs)in 2%of tested individuals if one follows the American College of Medical Genetics and Genomics(ACMG)guide-lines.i,z2 However,the rate of incidental and secondary findings(ISFs)is higher in routine clinical practice because of(i)the use of trio ES instead of solo sequencing and(i)the exclusion of the incidental findings(IFs)of medical value concerning genes in the ACMG list.Hence,it is not clear how sufficient is a restricted list of genes to detect every ISF of major clinical value;and what is the amount of additional workload for the laboratory.展开更多
文摘Dear Editor,Infertility affects about 15%of couples of childbearing age.i About half of these cases can be attributed predominantly to a male factor,such as a quantitative or qualitative impairment in spermatogenesis.The etiology of male infertility is related to anatomic,genetic,and environmental causes,being sometimes multifactorial and of unknown or idiopathic origins.At present,genetic screening for nonobstructive azoospermia(NOA)is generally limited to karyotyping for the identification of chromosome abnormalities such as 47,XXY,46,X,der(X)t(X;Y)(p22.3;p11.2),chromosome rearrangements,and Y chromosome microdeletions.Whole-genome analyses have shown that over 100 gene variants are associated with a male infertility phenotype,and the list continues to grow;hence,a large number of genes are involved in spermatogenesis.The continuing identification of genes responsible for male infertility in general and azoospermia,in particular,is a major challenge in both research and the diagnosis ofmale infertility.
文摘Exome sequencing(ES)generates secondary findings(SFs)in 2%of tested individuals if one follows the American College of Medical Genetics and Genomics(ACMG)guide-lines.i,z2 However,the rate of incidental and secondary findings(ISFs)is higher in routine clinical practice because of(i)the use of trio ES instead of solo sequencing and(i)the exclusion of the incidental findings(IFs)of medical value concerning genes in the ACMG list.Hence,it is not clear how sufficient is a restricted list of genes to detect every ISF of major clinical value;and what is the amount of additional workload for the laboratory.
