Fig. 1: THSD4 functional variant segregation in families with a history of thoracic aortic aneurysms. | Genetics in Medicine

Fig. 1: THSD4 functional variant segregation in families with a history of thoracic aortic aneurysms.

From: Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

Fig. 1

(a) Segregation of THSD4 variants p.(Leu247*), p.(Ala468Glnfs*45), and p.(Asp46_Gly48dup) with symptoms of cardiac disease respectively in families TAA-1889, TAA-1839, TAA-1850 with a history of thoracic aortic aneurysm and dissection (TAAD). Black arrows indicate probands. (b) Schematic representation of the THSD4 gene and protein indicating the location of pathogenic variants identified in French families. THSD4 is composed of 17 coding exons. Two premature termination codon (PTC) variants were identified in two families: c.740del in exon 4 leading to p.(Leu247*) and c.1402del in exon 8 leading to p.(Ala468Glnfs*45). The variant p.(Asp46_Gly48dup) was identified in a third family. Functional studies were performed for the following missense variants: p.(Tyr321Asn), p.(Gly753Asp), and p.(Arg781Trp). Reference transcript variants 1 and 2 are shown: variant 1 (NM_024817.2) represents the longer transcript and encodes the longer isoform (NP_079093.2). Variant 2 (NM_001286429.1) differs in the 5’ UTR and lacks multiple 5’ coding exons, compared with variant 1. It represents use of an alternate promoter and initiates translation from an alternate start codon. The encoded isoform 2 (NP_001273358.1) has a distinct N-terminus and is shorter than isoform 1.

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