Figure 1.

Individuals with TMEM147 germline variants identified in the cohort

(A) Representation of TMEM147 (purple) with its seven helices. Metadome constraint plot and distribution of exomic regions are reported above the TMEM147 model. Families with disease-causing variants are reported below. Homozygous variants are indicated in bold. Nonsense and frameshift variants are indicated in red, splice-site variant in blue, and missense variant in black.

(B) Family pedigrees and segregation analysis of the identified variants. “A” represents the wild-type allele and “a” the mutated one.