Desmosomes in heart and skin: friends or foes?

Caiazzo, Giuseppina; De Simone, Rosa Redenta; Monda, Emanuele; Barretta, Ferdinando; Uomo, Fabiana; Mazzaccara, Cristina; Megna, Matteo; Giuseppe, Limongelli; Frisso, Giulia

doi:10.1186/s12967-024-05137-3

Journal of Translational Medicine

Table 1 Molecular results detected in 14 ACM patients who underwent dermatological analysis

From: Desmosomes in heart and skin: friends or foes?

Patients	ACM Diagnosis	Sex	Gene	HGVS coding (c.DNA)^@	HGVS Protein Level^@	Variant classification
Patients	ACM Diagnosis	Sex	Gene	HGVS coding (c.DNA)^@	HGVS Protein Level^@	Class of Variant	Reference SNP ID*	ClinVar$	HGMD§	ACMG Classification#	ACMG Supporting Criteria#	MAF (%) **
AC-1	possible	M	PKP2	c.764T > A	p.Leu255His	missense	NR	VUS	CM2011575	VUS	PM2, PP3, BP1	NR
AC-2	possible	F	PKP2	c.368G > A	p.Trp123Ter	nonsense	rs760576804	NR	CM118968	P	PVS1, PP5, PM2	NR
AC-3	definite	M	PKP2	c.368G > A	p.Trp123Ter	nonsense	rs760576804	NR	CM118968	P	PVS1, PP5, PM2	NR
AC-3	definite	M	PKP2	c.764T > A	p.Leu255His	missense	NR	VUS	CM2011575	VUS	PM2, PP3, BP1	NR
AC-4	definite	M	PKP2	c.368G > A	p.Trp123Ter	nonsense	rs760576804	NR	CM118968	P	PVS1, PP5, PM2	NR
AC-4	definite	M	PKP2	c.764T > A	p.Leu255His	missense	NR	VUS	CM2011575	VUS	PM2, PP3, BP1	NR
AC-5	possible	M	DSG2	c.1996G > C	p.Asp666His	missense	rs771623047	VUS	NR	VUS	PM2, PP3, BP1	0.0008
AC-6	borderline	M	DSG2	c.1996G > C	p.Asp666His	missense	rs771623047	VUS	NR	VUS	PM2, PP3, BP1	0.0008
AC-7	possible	F	PKP2	c.2134G > A	p.Gly712Arg	missense	rs200844640	NR	NR	VUS	BS2, BP1, PP3	0.001
AC-8	possible	M	PKP2	c.2134G > A	p.Gly712Arg	missense	rs200844640	NR	NR	VUS	BS2, BP1, PP3	0.001
AC-9	borderline	F	PKP2	c.2134G > A	p.Gly712Arg	missense	rs200844640	NR	NR	VUS	BS2, BP1, PP3	0.001
AC-10	borderline	M	PKP2	c.2134G > A	p.Gly712Arg	missense	rs200844640	NR	NR	VUS	BS2, BP1, PP3	0.001
AC-11	possible	F	DSP	c.4419 C > T	p.Ala1473Ala	synonymous	rs727504542	NR	NR	LB	BP6, BP4, BP7, PM2	0.006
AC-12	possible	F	PKP2	c.2013del	p.Lys672ArgfsTer12	frameshift	rs764817683	LP	CD061457	P	PVS1, PP5, PM2	0.0008
AC-13	definite	F	PKP2	c.1105 A > G	p.Arg369Gly	missense	NR	NR	NR	VUS	PM2, BP1	NR
AC-14	definite	F	PKP2	c.2013del	p.Lys672ArgfsTer12	frameshift	rs764817683	LP	NR	P	PVS1, PP5, PM2	0.0008

@: HGVS(https://hgvs-nomenclature.org); *:Reference SNP ID: NCBI SNPs Database (https://www.ncbi.nlm.nih.gov); $: Clinvar (https://www.ncbi.nlm.nih.gov); §: HGMD Professional 2023.4 (https://www.hgmd.cf.ac.uk/ac/index.php) ; #: ACMG Classification/Supporting Criteria (Richards S et al. Genet Med. 2015); **: Minor allele frequency (as in gnomAD: https://gnomad.broadinstitute.org); VUS = Variant of Uncertain Significance, NR = Not Reported, LP = Likely Pathogenic, P = Pathogenetic, LB = Likely Benign. Gene Transcripts: PKP2 (NM_004572.4), DSG2 (NM_001943.5), DSP (NM_004415.4)

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ISSN: 1479-5876

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