Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.

Yin-Hsi ChangEugene Yu-Chuan KangLaura LiuLaura A JennyRin KhangGo Hun SeoHane LeeKuan-Jen ChenWei-Chi WuMeng-Chang HsiaoNan-Kai Wang

Published in: Orphanet journal of rare diseases (2023)

In summary, we described the first case of OPA13 caused by maternal gonosomal mosaicism in SSBP1. Parental mosaicism could be a serious issue in OPA13 diagnosis, and appropriate genetic counseling should be considered.

Keyphrases

optical coherence tomography
birth weight
pregnancy outcomes
genome wide
smoking cessation
optic nerve
diabetic retinopathy
gene expression
weight gain
gestational age
body mass index
human immunodeficiency virus