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case_images: Pedigree diagram and sequencing results of proband A. (A) Pedigree diagram. The WES identified a heterozygous missense mutation in exon 23 (c.8447T > C) (B) and a heterozygous missense mutation in exon 15 (c.4247T > G) (C) of the PKD1 gene in the proband (II-1) and affected family members (I-1 and III-1). The mutation sites were indicated by a red arrows in panels (B,C).
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case_images: F1
case_images: Sanger sequencing confirmed that proband's father (I-1) was a PKD patient (79 years old) with PKD1: c.8447T > C, while III-1 (21 years old) carries PKD1: c.4247T > G and is currently an asymptomatic carrier of the mutation (Figure 1).
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case_images: Pedigree diagram and sequencing results of proband B. (A) Pedigree diagram. (B) WES identified a heterozygous deletion mutation in exon 15 (c.3298_3301delGAGT) of the PKD1 gene in the proband (II-3) and affected family members (II-2 and III-1). The mutation sites were indicated by a red arrows panel in panel (B).
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case_images: F2
case_images: Additionally, the proband's nephew (III-1) (21 years old) seemingly asymptomatic, but has the same PKD1 mutation (Figure 2).
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case_images: Pedigree diagram, sequencing and abdominal CT scan result of proband C. (A) Pedigree diagram. The WES identified a heterozygous nonsense mutation in exon 15 (c.6406C > T) (B) and a heterozygous missense mutation (c.4798A > G) (C) of the PKD1 gene in the proband (II-2) and affected family member (III-1). The mutation sites were indicated by a red arrows in panels (B,C). (D) Abdominal CT scan performed in proband C at 55y showed enlarged bilateral kidneys with kidney cysts. The kidney cysts is indicated by a red arrow.
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case_images: F3
case_images: ADPKD. Among them, the proband's sister (II-3) reached ESKD at the age of 45, received a kidney transplant at the age of 52, and is currently in generally good condition (Figure 3).
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case_images: Pedigree diagram and sequencing results of proband D. (A) Pedigree diagram. (B) WES identified a heterozygous missense mutation in exon 19 (c.7567G > A) of the PKD1 gene in the proband (II-3) and affected family members (I-1 and III-1). The mutation sites were indicated by a red arrows in panel (B).
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case_images: F4
case_images: I-1 was diagnosed with PKD at the age of 72 and currently has normal kidney function, while III-1 is seemingly asymptomatic now (Figure 4).
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case_images: Pedigree diagram and sequencing results of proband E. (A) Pedigree diagram. The WES identified a heterozygous nonsense mutation in exon 39 (c.11215C > T) (B) and a heterozygous missense mutation (c.11717G > C) in exon 43 (C) of the PKD1 gene in the proband, and the results of family members (III-1 and III-2) were displayed. The mutation sites were indicated by a red arrows in panels (B,C).
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case_images: F5
case_images: However, the corresponding PKD1 gene mutation was negative for the proband's son (III-2) (11 years old) and proband's nephew (III-1) (29 years old), both of whom were apparently normal population (Figure 5).
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case_images: Pedigree diagram and sequencing results of proband F. (A) Pedigree diagram. (B) A heterozygous intron variation (c.7703 + 5G > C) of the PKD1 gene in the proband (II-2) and affected family members (II-4 and II-6) were identified. The mutation sites are indicated by a red arrows in panel (B).
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case_images: F6
case_images: However, the mutation in the PKD1 gene was not detected in the proband's daughter (III-1) (16 years old) (Figure 6).
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case_images: Pedigree diagram and sequencing results of proband G. (A) Pedigree diagram. The WES identified a heterozygous missense mutation in exon 23 (c.8312A > T) (B) and a heterozygous missense mutation in exon 15 (c.3296G > A) (C) of the PKD1 gene in the proband (II-2), and the results in family members (III-1 and III-2) were displayed. The mutation sites are indicated by a red arrows in panels (B,C).
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case_images: F7
case_images: The corresponding PKD gene mutation in the son of the proband (III-1) (36 years old) was negative (Figure 7).
case_images: PMC10600478_16
case_images: Pedigree diagram and sequencing results of proband H. (A) Pedigree diagram. The WES identified a heterozygous frameshift mutation in exon 23 (c.8515_8516insG) (B) and a heterozygous missense mutation in exon 15 (c.5524C > A) (C) of the PKD1 gene in the proband (II-1) and affected family member (III-1). The mutation sites were indicated by a red arrows in panels (B,C).
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case_images: F8
case_images: Sanger sequencing confirmed that the son of the proband (III-1) (3 years old) carries the mutations and is an apparently normal mutation carrier (Figure 8).