Erratum: New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

Although the genetic basis of human sexual determination and differentiation has advanced considerably in recent years, the fact remains that in most subjects with disorders of sex development (DSD) the underlying genetic cause is unknown. Where pathogenic mutations have been identified, the phenotype can be highly variable, even within families, suggesting that other genetic variants are influencing the expression of the phenotype. This situation is likely to change, as more powerful and affordable tools become widely available for detailed genetic analyses. Here, we describe recent advances in comparative genomic hybridisation, sequencing by hybridisation and next generation sequencing, and we describe how these technologies will have an impact on our understanding of the genetic causes of DSD.

尽管近年来人类性别决定与分化的遗传基础研究已取得长足进展，但目前大多数性发育异常（disorders of sex development, DSD）患者的潜在遗传病因仍未明确。在已明确致病突变的病例中，其表型往往存在高度异质性，即便在同一家族中亦是如此，这提示存在其他遗传变异影响表型的表达。随着功能更强大、成本更为亲民的精细化遗传分析工具广泛普及，这一现状有望得到改变。本文综述了比较基因组杂交（comparative genomic hybridisation）、杂交测序（sequencing by hybridisation）以及下一代测序（next generation sequencing）领域的最新进展，并阐述了这些技术将如何推动我们对DSD遗传病因的认知。