{Reference Type}: Case Reports
{Title}: A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report.
{Author}: Ng VKS;Lau TK;Kan ASY;Chung BHY;Luk HM;Ng WF;Shi M;Choy KW;Cao Y;Leung WC;
{Journal}: Diagnostics (Basel)
{Volume}: 11
{Issue}: 9
{Year}: Aug 2021 30
{Factor}: 3.992
{DOI}: 10.3390/diagnostics11091576
{Abstract}: 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 OCLN gene defects may be associated with these multiple congenital abnormalities.