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A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the <i>OCLN</i> Gene: A Case Report
oleh: Vivian Kwun Sin Ng, Tze Kin Lau, Anita Sik Yau Kan, Brian Hon Yin Chung, Ho Ming Luk, Wai Fu Ng, Mengmeng Shi, Kwong Wai Choy, Ye Cao, Wing Cheong Leung
| Format: | Article |
|---|---|
| Diterbitkan: | MDPI AG 2021-08-01 |
Deskripsi
Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens, particularly during critical periods of early tissue development. Here, we reported a prenatal case with microcephaly, microphthalmia, and bilateral cataracts detected by ultrasonography and confirmed by autopsy. Various routine infection-related tests and invasive genetic testing were negative. Whole genome sequencing of fetus and parents revealed <i>OCLN</i> gene defects may be associated with these multiple congenital abnormalities.