Table 1.

Desmoplakin mutations so far reported in association with Carvajal/Naxos syndrome.

AOP (y)	Sex	EO	APF	Mutation	Reference
16	Female	Arab	ARVD, pemphigus-like skin	Gly2375Arg	[10]
29	Male	Caucasian	Leukonychia, oligodontia	c.1691C > T	[3]
10	Male	Caucasian	Brittle nails, oligodontia, ARVD	c.1691C > T	[3]
5	Male	Arab	External rotation of 5th toe	c.3924delG	[11]
59	Female	Arab	Onychogryphosis	c.7111C > A	[11]
21	Female	Arab	SCD	c.7111C > A	[11]
3	Male	nm	Alopecia, nail dystrophy	p.R1400X + p.R2284X	[12]
19	Female	Turkish	HTX, consanguineous parents	c.7780delT	[13]
14	Female	Caucasian	Bicuspid aortic valve	c.1748T > C (p.Leu583Pro)	[14]
22	Female	Caucasian	Dental agenesis, leukonychia	c.1691T > C (p.Thr564Ile)	[14]
10	Male	nm	LVHT	del5208-5209AG	[6]
11	Female	Indian	ARVD	c.3901C > T	[15]
17	Male	nm	Oligodontia	c.1790C > T	[16]
14	Male	Caucasian	Enamel defects, mucosal blistering	c.7964C > A, c.6310delA	[17]
14	Female	nm	Oligodontia, ARVD	c.7902delG	[7]
43	Female	Caucasian	Hypoacusis, oligodontia, LVHT	c.1678A > T	[present case]
6 patients	nm	Ecuadorian	Frameshift, truncated protein	c.7901delC	[18]
3	Female	nm	Oligodontia	c.6ß8 ins	[7]
3.5	Male	Turkish	Left and right dCMP (Naxos)	R1267X	[8]

AOP: age of patient, EO: ethnic origin, APF: phenotypic features in addition to Carvajal syndrome, ARVD: arrhythmogenic right ventricular dysplasia, nm: not mentioned, LE: leukoencephalopathy, SCD: sudden cardiac death, HTX: heart transplantation, LVHT: left ventricular hypertrabeculation.