Fig 3 - available via license: Creative Commons Attribution 4.0 International
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Pedigree of the family. The genetic status of the father of spouse is unknown. The figure indicates the carrier status of the pathogenic variants c.1358C > T and c.1957 T > A in the SLC26A2 gene among family members and embryos (emb1, emb2, and emb3)
Source publication
Background
Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene.
Case presentation
This article presents a clinical case of preimplantation genetic testing for monogenic disorders (PGT-M) conducted for a family with two previ...
Context in source publication
Context 1
... that the wife carried the pathogenic variant c.1358C>T (highrisk allele T), while the husband was found to carry c.1957T>A (high-risk allele A) (Fig. 2). Additionally, the pathogenic variant c.1358C>T was identified in A. 's sister, while their mother did not exhibit this variant, indicating that it was inherited by the sisters from their father (Fig. ...
