Fig. 2

Pedigree diagrams and genetic variants of the patients. (A-C) patient 1. (A) The pedigree diagram of the family, the proband’s parents and the younger sister were phenotypically normal; the proband’s elder sister carried the same variation with the proband. (B) Sanger sequencing confirmed heterozygous c.916 C > T and (C) heterozygous c.1147G > T in the TCTN2 gene; (D-F) patient 2.(D) The pedigree diagram; (E) Sanger sequencing confirmed a heterozygous c.1819_1820insT variant in the CPLANE1 gene; (F) Fluorogenic quantitative PCR result for heterozygous CPLANE1 exon 34–41 duplication, the ALB gene was used as the reference gene; (G-I) patient 3.(G) The pedigree diagram of the family, the proband’s sister carried the same variation with the proband; (H) Sanger sequencing result shows a heterozygous c.669_670delGC variant in the INPP5E gene; (I) Sanger sequencing confirmed a heterozygous c.1393G > A variant in the family; (J,K) patient 4.(J) The pedigree diagram; (K) Schematic representation of capture efficiency for homozygous NPHP1 exons 1–20 deletion; (L-N) patient 5.(L) The pedigree diagram; (M) Sanger sequencing confirmed a heterozygous c.2728 C > T variant and (N) a heterozygous c.4238G > A variant in the CC2D2A gene