Table 1.
NAXOS-Carvajal Phenotype with or without Additional Features.
| Reference | Ethnicity | Consan-guinity | Gene abnormalities | Organ involvement | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Inheri-tance | Genes | Mutation(s) | Heart | Skin | Hair | Others | ||||
| NAXOS-Carvajal phenotype with additional features | ||||||||||
| bullous phenotype: | ||||||||||
| (18) | Brazilian | No | AR# | DSP | c.2516del4 c.3971del4 | BiV | PPK, striate | near-total alopecia | thick and dystrophied nails | |
| (19) | Finnish | No | AR# | DSP | c.7964C>A c.6310delA | BiV | PPK | woolly, short, sparce | dystrophied and detached nails, enamel dysplasia | |
| (12) | Palestinian | Yes | AR | DSP | c.7111C>A | RV, BiV | PPK, epidermolytic | woolly | toe onychogryphosis | |
| present case | Japanese | No | U | U*1 | U | BiV | PPK, mild | curly auburn change | brittle nails, leukonychia | |
| non-bullous phenotype: | ||||||||||
| (3) | Greek | U | AR | U | U | BiV | PPK | steel wire-like | curved nails short fingers | |
| (15) | Indian | Yes | U | U | U | LV | PPK | curly, soft and woolly alopecia | thickened and deformed nails | |
| (4) | Ecuadorian | No | AR | U | U | LV | PPK | woolly | fingernail clubbing | |
| (16) | Indian | Yes | AR | U | U | BiV | PPK | woolly | cleft lip and palate | |
| (6) | U | U | AD | DSP | 30bp insertion*2 | BiV | PPK, focal and psoriasiform | woolly | tooth agenesis | |
| (20) | Indian | Yes | U | U | U | epsilon waves T wave inversion | PPK, striate | woolly | clubbed finger nails middle lobe syndrome | |
| (21) | U | U | AD | DSP | c.1790C>T | BiV | PPK | woolly | fragile nails tooth agenesis | |
| (17) | U | No | U | U*1 | U | LV | PPK | wavy and wiry | small, white and thick nails periodontitis, hypodontia | |
| (22) | ||||||||||
| (23) | U | U | U | U*3 | U | LV | PPK | woolly | thick and fragile nails tooth agenesis | |
| (7) | Caucasian | U | AD | DSP | c.1691C>T | BiV | PPK | woolly | leukonychia oligodontia | |
| (24) | Caucasian | No | AD | DSP | c.1748T>C | BiV | PPK | woolly | dystrophied nails | |
| (24) | Caucasian | No | AD | DSP | c.1691C>T | BiV | PPK, slight | curly and woolly | toe leukonychia tooth agenesis | |
| (25) | Caucasian | No | AD | U | U | LV apical LVHT | PPK | woolly and darkened | tooth agenesis | |
| (26) | Lebanese | U | AD | DSP | c.1865T>C | LV | PPK | woolly | leukonychia tooth agenesis | |
| NAXOS-Carvajal phenotype without additional features | ||||||||||
| bullous phenotype: | ||||||||||
| (27) | Arabic | Yes | AR | DSP | c.7402G>C | RV | no PPK dry skin | woolly | - | |
| non-bullous phenotype: | ||||||||||
| (31) | Ecuadorian | Yes | AR | DSP | c.7901delG | LV | PPK, striate | curly and woolly | - | |
| (5) | Greek | U | AR | JUP | c.2157_2158 delTG | RV | keratosis | woolly | - | |
| (32) | Asian-Indian | U | de novo | U | U | RV | PPK | woolly | - | |
| (33) | Turkish | Yes | AR | DSP JUP | c.3799C>T c.2089T>A | BiV | PPK | woolly | - | |
| (34) | Arabic | Yes | AR | U | U | BiV | PPK | curly | - | |
| (35) | Azerbaijan | Yes | AR | DSP | 2-bp deletion of exon 23 | BiV BiVHT | PPK | woolly | - | |
| (36) | Spanish | U | U | U*3 | U | RV | PPK | woolly | - | |
| (37) | U | Yes | AR | U | U | RV | PPK | woolly | - | |
| (11) | Pakistani | Yes | AR | DSC2 | c.1841delG | BiV | PPK, mild | woolly | - | |
| (38) | U | Yes | AR | DSP | c.5208_5209 delAG | BiV | PPK, acantholytic | woolly | - | |
| (39) | Indian | Yes | AR | DSP | c.3901C>T | BiV | PPK | woolly, curly, brittle | - | |
| (40) | non-Greek | U | U | U | U | RV | PPK | woolly | - | |
| (41) | Turkish | Yes | AR | DSP | c.7780delT | BiV | PPK | woolly | - | |
| (42) | Italian | U | AD | DSP | c.878A>T | BiV | keratosis | - | ||
| (12) | Palestinian | Yes | AR | DSP | c.3924delG | BiV | keratosis | woolly | - | |
#compound heterogeneous inheritance.
*1no DSP gene mutation was detected.
*2c.1823_1824insACAGTCTCAGTTCACCGATGCCCGGAAAAT.
*3no mutations in DSP nor JUP genes were identified.
AR: autosomal recessive inheritance, AD: autosomal dominant inheritance, BiV: biventricular involvement, BiVHT: biventricular hypertrabeculation/noncompaction, DSP: desmoplakin, JUP: plakoglobin, LV: left ventricular involvement, LVHT: left ventricular hypertrabeculation/noncompaction, RV: right ventricular involvement, U: unknown