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. Author manuscript; available in PMC: 2025 Jul 15.
Published in final edited form as: Genet Med. 2025 Jun 23;27(9):101506. doi: 10.1016/j.gim.2025.101506

Figure 1. Pedigrees and variant visualization.

Figure 1.

A) Pedigrees demonstrating the seven families and genotypes of tested individuals, indicated using + (pathogenic variant) and – (wild type). B) The ELFN1 transcript (NM_001128636.4) with each exon numbered 1-4 and the coding region depicted in dark blue. The pathogenic deletions identified in this report are represented at their location along the transcript in black text, whilst the previously identified pathogenic deletion is presented in grey text. C) The ELFN1 protein with functional regions depicted by colour and labelled as SP (signal peptide), LRR (leucine rich repeat), LRRCT (leucine rich C-terminal domain), FN3 (fibronectin type III domain), TM (transmembrane domain). The pathogenic deletions identified in this report are represented at their location along the transcript in black text, whilst the previously identified pathogenic deletion is presented in grey text. Regions of putatively translated frameshifts are demonstrated by an extended red line, whilst the downstream new stop codon is shown via a red cross.