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Fig. 2 | Human Genomics

Fig. 2

From: Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Fig. 2

DLG5 variant is associated with MRKH syndrome. A DLG5 is highly expressed in the human cervix, uterus, and vagina. The data were obtained from an online database (https://varsome.com/gene/DLG5). The red arrows denote the expression level of DLG5 in the human cervix, uterus, and vagina. B Sanger sequencing validating the DLG5 variant in patient Fc-M-6. The red arrow indicates the variant site c.418C>T. C The domain and mutation in DLG5. Full-length DLG5 is 1919 amino acids long. The Q140* mutation resulted in a nonsense mutation, which lost nearly all of the functional domains; WT, wild type allele

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Human Genomics

ISSN: 1479-7364