TY - JOUR
T1 - A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts
AU - Mezad-Koursh, Daphna
AU - Rosenfeld, Eldar
AU - Bachar Zipori, Anat
AU - Zur, Dinah
AU - Elhanan, Emil
AU - Ben-Shachar, Shay
N1 - Publisher Copyright:
© 2022, The Author(s), under exclusive licence to European Society of Human Genetics.
PY - 2023/1
Y1 - 2023/1
N2 - Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by the involvement of the eyes, face, teeth, and heart with variable expressivity. The syndrome is caused by loss-of-function variants in the BCOR gene located on the X chromosome. OFCD affects only females with presumed embryonic lethality among males. We report a first case of a female with biallelic mosaic variants in BCOR gene, leading to a severe ocular phenotype including anterior segment dysgenesis, cataracts, and retinal involvement. The unique condition of biallelic mosaic loss-of-function mutations leads to a variable expression of an allele with the pathogenic variant, independent of the X-Inactivation pattern. This novel mechanism of co-existent biallelic mosaicism should be suspected in unexplained severe cases of OFCD.
AB - Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by the involvement of the eyes, face, teeth, and heart with variable expressivity. The syndrome is caused by loss-of-function variants in the BCOR gene located on the X chromosome. OFCD affects only females with presumed embryonic lethality among males. We report a first case of a female with biallelic mosaic variants in BCOR gene, leading to a severe ocular phenotype including anterior segment dysgenesis, cataracts, and retinal involvement. The unique condition of biallelic mosaic loss-of-function mutations leads to a variable expression of an allele with the pathogenic variant, independent of the X-Inactivation pattern. This novel mechanism of co-existent biallelic mosaicism should be suspected in unexplained severe cases of OFCD.
UR - http://www.scopus.com/inward/record.url?scp=85140134889&partnerID=8YFLogxK
U2 - 10.1038/s41431-022-01195-7
DO - 10.1038/s41431-022-01195-7
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 36261622
AN - SCOPUS:85140134889
SN - 1018-4813
VL - 31
SP - 125
EP - 127
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 1
ER -