Research Article

Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin

Table 2

Summary of analyzed SRNS families.

PatientGenotypeGenderPaternal allelesMaternal alleles

1c.1032delT/c.686G>Afc.1032delTc.686G>A
2c.1032delT/c.686G>Amc.1032delT/c.686G>Ac.686G>A
3c.1032delT/c.686G>Afc.1032delTc.686G>A
4c.1032delT/c.1032delTfc.1032delTc.1032delT
5c.1032delT/c.686G>Afc.686G>Ac.1032delT
6c.1032delT/c.686G>Afnana
7c.1032delT/c.686G>Amc.1032delTc.686G>A
8c.1032delT/c.686G>Afc.1032delTc.686G>A

Parental alleles with the available haplotype data are indicated in bold. The c.686G>A allele not transferred to the affected child is underlined. An asterisk indicates the genotype from the consanguineous union, counted as a single allele. f: female; m: male.