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Table 1 Clinical presentation of kidney and liver disease in 8 affected individuals with GANAB variants

From: Novel GANAB variants associated with polycystic liver disease

  Family 11-0741 Unrelated individuals
8951 9087 8380 11726 11475 11716 8700 12241
Gender Female Female Male Female Male Female Female Female
Diagnosis ADPLD ADPLD ADPLD ADPLD ADPLD ADPKD ADPLD ADPLD
Mutation (RefSeq NM_198335)
Chromosome position (Hg19) g.62400926TG>G g.62400926TG>G g.62393841C>T g.62394111C>T g.62396665G>C g.62414056delTAGCGG g.62397125G>C g.62397125G>C
cDNA change c.687delT c.687delT c.2656C>T c.2509C>T c.2002+1G>C c.11_16delTAGCGG c.1835G>C c.1835G>C
Amino acid change p.Asp229Glufs*60 p.Asp229Glufs*60 p.Arg886* p.Arg837* Splicing variant p.Val4_Ala5del p.Arg612Pro p.Arg612Pro
Radiological presentation
Type CT Ultrasound CT CT n/a MRI CT CT
Liver cysts > 20 cysts multiple cysts 15 cysts > 20 cysts n/a > 20 cysts > 10 cysts > 30 cysts
kidney cysts No No 2 bilateral cysts No n/a > 20 bilateral cysts 3 cysts in left kidney 1 cyst in left kidney
  1. ADPKD autosomal dominant polycystic kidney disease, ADPLD autosomal dominant polycystic liver disease, CT computed tomography, MRI magnetic resonance imaging, n/a not available for review