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SRD5A3-CDG: Twins with an intragenic tandem duplication.
- Source :
-
European Journal of Medical Genetics . May2022, Vol. 65 Issue 5, pN.PAG-N.PAG. 1p. - Publication Year :
- 2022
-
Abstract
- Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare metabolic disease mainly characterized by psychomotor disability, visual impairment, and variable eye malformations caused by bi-allelic pathogenic variants in SRD5A3. So far, only 23 distinct mutations were described. Exome sequencing in 32-year old monozygotic male twins revealed only the heterozygous splice variant c.562+3delG in SRD5A3 , but no second variant. The twins presented with psychomotor deficit and a complex eye disease including retinal dystrophy, pallor of the papilla, nystagmus, and strabismus suggestive of SRD5A3-CDG. Only when applying exome-based copy number analysis, we identified as a second compound heterozygous variant a previously not reported tandem duplication of exons 2–4 in SRD5A3. Next to the typical skeletal anomalies of SRD5A3-CDG such as kyphosis and scoliosis, extension deficits of the proximal interphalangeal (PIP) joints IV were observed. Since similar contractures were described once in a patient with SRD5A3-CDG, we suggest that this rare symptom is possibly associated with SRD5A3-CDG. Our findings further expand the mutational and clinical spectrum of SRD5A3-CDG and emphasize the importance of an intragenic copy number analysis in patients with strong clinical suspicion of SRD5A3-CDG and only one detectable sequence variant. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17697212
- Volume :
- 65
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- European Journal of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 156319273
- Full Text :
- https://doi.org/10.1016/j.ejmg.2022.104492