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Two cases of androgen insensitivity due to somatic mosaicism

机译：两例因体细胞镶嵌症引起的雄激素不敏感

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Androgen insensitivity syndrome (AIS) is caused by mutations in the gene encoding the androgen receptor (AR). The incidence of AIS is estimated to be 1 in 99,000. Complete androgen insensitivity syndrome (CAIS) is characterized by a 46,XY karyotype with external genitalia that appear typically female and results from mutations that render the androgen receptor non-functional. Partial androgen insensitivity syndrome (PAIS) results from partial loss of function mutations in AR . Rarely, PAIS results from somatic mosaicism for an AR mutation and not from a hypomorphic variant. We present two cases of PAIS due to somatic mosaicism, one caused by a novel nonsense mutation and one caused by a missense mutation previously reported in CAIS. Two patients with atypical genitalia presented to our multidisciplinary clinic for disorders of sex development and sequencing of AR was performed as part of the diagnostic evaluation. In case one, AR sequencing revealed mosaicism for a nonsense mutation, c.1331T > A; p.Leu444Ter. This mutation has not previously been reported, but is presumed to be pathogenic. In case two, AR sequencing revealed a mosaic missense mutation, c.2279 C > A; p.Ser760Tyr, which has previously been reported in CAIS but not in PAIS. Similar phenotypes may result from AR mutations that are present in a mosaic state with full loss of function or hypomorphic mutations that partially impair the function of the protein in either all tissues or in a mosaic state.
机译：雄激素不敏感综合症（AIS）是由编码雄激素受体（AR）的基因突变引起的。 AIS的发生率估计为99,000分之一。完全雄激素不敏感综合症（CAIS）的特征是具有外部生殖器的46，XY核型，通常表现为女性，并且是由导致雄激素受体无功能的突变导致的。部分雄激素不敏感综合征（PAIS）是由AR的部分功能突变所致。很少，PAIS是由AR突变的体细胞镶嵌引起的，而不是由亚型变异引起的。我们介绍了两例由于体细胞镶嵌而引起的PAIS，一例是由新的无意义突变引起的，另一例是由CAIS先前报道的错义突变引起的。作为诊断评估的一部分，向我们的多学科门诊就性别发展障碍进行了检查的两名非典型生殖器患者进行了测序。在第一种情况下，AR测序揭示了无意义突变的嵌合体，c.1331T> A;第444页该突变以前没有报道，但推测是致病的。在第二种情况下，AR测序显示马赛克错义突变，c.2279 C> A; p.Ser760Tyr，以前在CAIS中有报道，但在PAIS中没有报道。类似的表型可能是由镶嵌状态下存在的AR突变导致功能完全丧失或亚型突变导致的，这些突变或部分破坏了蛋白质在所有组织或镶嵌状态下的功能。

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