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

Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in the SSBP1 gene...

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Published in:Orphanet journal of rare diseases 2023-05, Vol.18 (1), p.131-131, Article 131
Main Authors: Chang, Yin-Hsi, Kang, Eugene Yu-Chuan, Liu, Laura, Jenny, Laura A, Khang, Rin, Seo, Go Hun, Lee, Hane, Chen, Kuan-Jen, Wu, Wei-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai
Format: Article
Language:English
Subjects:
Adolescent
Atrophy
Case studies
Causes of
Diagnosis
DNA-Binding Proteins
Families & family life
Family medical history
Female
Gene frequency
Genetic aspects
Genetic Counseling
Gonosomal mosaicism
Humans
Male
Medical research
Mitochondrial DNA
Mitochondrial Proteins
Mosaicism
Mutation
Mutation - genetics
Optic Atrophy
Peripheral blood
Photography
Photoreceptors
Proteins
Rare diseases
Retina
Retinal degeneration
Retinal Degeneration - genetics
RNA polymerase
SSBP1
Whole exome sequencing
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Summary:Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in the SSBP1 gene, associated with variable mitochondrial dysfunctions. We have previously reported a 16-year-old Taiwanese male diagnosed with OPA13 and SSBP1 variant c.320G>A (p.Arg107Gln) was identified by whole exon sequence (WES). This variant was assumed to be de novo since his parents were clinically unaffected. However, WES and Sanger sequencing further revealed the proband's unaffected mother carrying the same SSBP1 variant with a 13% variant allele frequency (VAF) in her peripheral blood. That finding strongly indicates the maternal gonosomal mosaicism contributing to OPA13, which has not been reported before. 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.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-023-02748-9