Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia

Fig. 1

WES identified three concurrent pathogenic variants in our patient. a A de novo variant (c.881-883del, p.Phe294del) was identified in SLC6A1. b A de novo variant (c.1100-2A > G) was identified in NOTCH1. c A pathogenic variant (c.265 T > G, p. Tyr89Asp) in PRIMPOL was identified in our patient and his younger brother and was inherited from the affected father. Furthermore, the variant was absent from the genomes of the paternal grandparents and thus was also a de novo change in the family. Red arrows, mutant bases

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us