Article
Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome.
Frontiers in immunology - 1 Jan 2024
Orellana Halyn, Yan Jia, Paul Alex, Tokita Mari, Ding Yan, Ghosh Rajarshi, Lewis Katie L, Davis Joie, Jamal Leila, Jodarski Colleen, Similuk Morgan, Saucier Nermina, Zhu Zhanyang, Wang Yihe, Wu Sitao, Ruggieri Jason, Su Helen C, Uzel Gulbu, Nahas Shareef, Cooper Megan, Walkiewicz Magdalena A
Abstract excerpt
Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their offspring. In families with one or more affected offspring, occurrence of the same apparently de novo variants can be an indicator of mosaicism in either parent....
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