Fig. 1: Clinical features and variant analysis.
From: Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis
(a) Pedigrees of the two families. Black symbols denote affected individuals. Direct sequencing of C3ORF52 (NM_024616.2) revealed a homozygous T>A transversion (arrow) at position c.492 of the complementary DNA (cDNA) sequence in individuals II-1 and II-2, family 1 (middle left panel) as well as a homozygous G>T transversion (arrow) at position c.34 of the cDNA sequence in individuals II-1 and II-2, family 2 (middle right panel). The wild-type sequences (WT/WT) are given for comparison (lower panels). (b) Hypotrichosis in individual II-1, family 1. (c) Histopathological examination of a scalp skin biopsy obtained from individual II-2, family 1 demonstrates decreased hair density in the absence of inflammation and fibrosis (scale bar, 100 μm). (d) The location of the two variants is depicted along a schematic representation of the C3ORF52 gene and C3ORF52 protein.
