PMC10293958_01
Variant identification by Sanger sequencing. a The father carried the heterozygous c.8317C>T variant, the mother carried the heterozygous c.9237-13_9237-10delGTAC variant, and 2 patients carried the CUBN double allele variant from both the father and mother. The red arrow indicates the variant site. b Position of the CUBN variants along the cubilin protein.
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F1
However, the mother carried the heterozygous c.9237-13_9237-10delGTAC variant, which was absent in the father (Fig. 1a).
Family diagram of the 2 patients.
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F2
A carried the CUBN double allele variant from both the father and mother (Fig. 2). According to American College of Medical Genetics and Genomics (ACMG) guidelines, the c.8317C>T variant was tentatively classified as "suspected pathogenic" and the c.9237-13_9237-10delGTAC variant as "unknown clinical significance," both of which were low-frequency mutations.