Fig. 1.

Identification of LRP5 variants p.R1188W in an extended Dutch PCLD-1 family (A) and three additional LRP5 variants in three unrelated PCLD families. Generations are denoted with Roman numerals, and individuals are numbered in a counterclockwise way. Squares indicate male sex, and circles indicate female sex. Solid symbols denote affected individuals, and open symbols are individuals without or unknown for PCLD. A slash indicates that the individual is deceased. (B) Simplified pedigree from PCLD-1 family with the clinical features by abdominal CT scanning and ultrasound of the liver of both probands (III/18 and II/18) in which whole-exome sequencing was performed (green arrow). (C) LRP5 is located at chromosome 11q13.2, and the sequence electropherogram shows heterozygous germ-line mutations. (D) All LRP5 missense mutations were located at highly evolutionary conserved amino acid regions with ortholog proteins from human to frog.