Fig. 1

Pedigree and ROH plots of the families with a sibling with MPVs. A Pedigree structure and molecular findings in family HOU1842. Both affected siblings share a homozygous variant in TNN; BAB4133 has additional homozygous variants in CYP1B1. B ROH plot around the CYP1B1 variant in BAB4133 and BAB4134. B-allele frequency calculated from ES data is visualized as horizontal black dots. ROH blocks are marked by gray rectangles. Red vertical line marks the CYP1B1 variant position. C Pedigree structure and molecular findings in HOU2280. Both affected siblings share a homozygous variant in ASH2L; BAB6025 has additional homozygous variants in ECEL1. D ROH plot around the ECEL1 variant in BAB6025 and BAB6026. B-allele frequency calculated from ES data is visualized as horizontal black dots. ROH blocks are marked by gray rectangles. Red vertical line marks the ECEL1 variant position. E Pedigree structure and molecular findings in HOU2437. Both affected siblings share a homozygous variant in CINP; BAB4133 has additional homozygous variants in MFN2. F ROH plot around the MFN2 variant in BAB6511 and BAB6512. B-allele frequency calculated from ES data is visualized as horizontal black dots. ROH blocks are marked by gray rectangles. Red vertical line marks the MFN2 variant position. G Pedigree structure and molecular findings in HOU4131. H ROH plot around the PLA2G6 variant in BAB11385 and BAB11388. B-allele frequency calculated from ES data is visualized as horizontal black dots. ROH blocks are marked by gray rectangles. Red vertical line marks the PLA2G6 variant position