Diagnostic Test: GENODERMATOSI CARATTERIZZATE DA DISORDINI DI CHERATINIZZAZIONE / ITTIOSI EREDITARIA

Diagnostic test: GENODERMATOSI CARATTERIZZATE DA DISORDINI DI CHERATINIZZAZIONE / ITTIOSI EREDITARIA

GENODERMATOSIS CHARACTERIZED BY KERATINIZATION DISORDERS Panel / Illumina Custom panel, Nextera Enrichment Technology / Coding exons and flanking regions of genes

List of gene(s) and disease(s) tested: ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ATP2A2, ATP2C1, CDSN, CERS3, CLDN1, COL14A1, CSTA, CTSC, CYP4F22, DKC1, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GJB6, GTF2H5, JUP, KRT1, KRT10, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT9, LIPN, LOR, MBTPS2, MPLKIP, NHP2, NIPAL4, NOP10, NSDHL, PKP1, PNPLA1, POMP, RHBDF2, SAT1, SERPINB7, SLC27A4, SLURP1, SMARCAD1, SNAP29, SPINK5, ST14, STS, SUMF1, TAT, TERC, TERT, TGM1, TGM5, TINF2, WRAP53 Acrocheratosi verruciforme di Hopf Adermatoglifia congenita isolata Cheratoderma palmoplantare diffuso con fessure dolorose Cheratoderma palmoplantare epidermolitico Cheratoderma palmoplantare non epidermolitico Cheratoderma palmoplantare puntato, tipo 1 Cheratoderma palmoplantare transgrediens e progrediens Cheratoderma palmoplantare, tipo Nagashima Cheratosi follicolare spinulosa decalvante di Siemens Cheratosi lineare - ittiosi congenita - cheratoderma sclerosante Cheratosi palmoplantare striata Condrodisplasia puntata dominante legata all'X Deficit multiplo di solfatasi Discheratosi congenita Displasia ectodermica idrotica Eritrocheratodermia variabilis Ittiosi Ittiosi bollosa di Siemens Ittiosi esfoliativa Mal de Meleda Malattia di Darier Malattia di Naxos Pachionichia congenita Pemfigo benigno cronico familiare (Malattia di Hailey-Hailey) Sindrome BRESHECK Sindrome CEDNIK Sindrome cheratoderma palmoplantare-carcinoma esofageo Sindrome da desquamazione cutanea localizzata Sindrome di CHILD Sindrome di Dorfman-Chanarin Sindrome di Netherton Sindrome di Papillon-Lefèvre Sindrome di Richner-Hanhart (Tirosinemia, tipo 2) Sindrome di Sjögren-Larsson Sindrome di Sjögren-Larsson Sindrome displasia ectodermica-fragilità cutanea Sindrome ipopigmentazione-cheratoderma palmoplantare puntato (Malattia di Cole) Sindrome ittiosi-prematurità Sindrome KID/HID Sindrome MEDNIK sindrome NISCH Tricotiodistrofia

Tabella. Elenco delle GENODERMATOSI CARATTERIZZATE DA DISORDINI DI CHERATINIZZAZIONE / ITTIOSI EREDITARIA e la loro eziologia genetica. Gene OMIM# Phenotype OMIM# Gene Phenotype ATP2A2 108740 Acrokeratosis verruciformis; Darier disease 101900; 124200 SMARCAD1 612761 Adermatoglyphia 136000 CERS3 615276 Autosomal recessive congenital ichthyosis 615023 SNAP29 604202 CEDNIK syndrome 609528 ABHD5 604780 Chanarin-Dorfman syndrome 275630 NSDHL 300275 CHILD syndrome 308050 EBP 300205 Chondrodysplasia punctata, X-linked dominant 302960 ENPP1 173335 Cole disease 615522 DKC1 300126 Dyskeratosis congenita 305000 TERC 602322 Dyskeratosis congenita, autosomal dominant 1 127550 TINF2 604319 Dyskeratosis congenita, autosomal dominant 3 613990 NOP10 606471 Dyskeratosis congenita, autosomal recessive 1 224230 NHP2 606470 Dyskeratosis congenita, autosomal recessive 2 613987 WRAP53 612661 Dyskeratosis congenita, autosomal recessive 3 613988 TERT 187270 Dyskeratosis congenita, autosomal recessive 4 613989 GJB6 604418 Ectodermal dysplasia, Clouston type 129500 PKP1 601975 Ectodermal dysplasia/skin fragility syndrome 604536 KRT9 607606 Epidermolytic palmoplantar keratoderma 144200 GJB3 603324 Erythrokeratodermia variabilis et progressiva 133200 GJB4 605425 Erythrokeratodermia variabilis with erythema gyratum repens 133200 CSTA 184600 Exfoliative ichthyosis 607936 ATP2C1 604384 Hailey-Hailey disease 169600 KRT2 600194 Ichthyosis bullosa of Siemens 146800 SLC27A4 604194 Ichthyosis prematurity syndrome 608649 FLG 135940 Ichthyosis vulgaris 146700 ST14 606797 Ichthyosis with hypotrichosis 610765 ABCA12 607800 Ichthyosis, autosomal recessive 4B (harlequin);Ichthyosis, congenital, autosomal 242500; 601277 recessive 4A TGM1 190195 Ichthyosis, congenital, autosomal recessive 1 242300 PNPLA1 612121 Ichthyosis, congenital, autosomal recessive 10 615024 ALOX12B 603741 Ichthyosis, congenital, autosomal recessive 2 242100 ALOXE3 607206 Ichthyosis, congenital, autosomal recessive 3 606545 CYP4F22 611495 Ichthyosis, congenital, autosomal recessive 5 604777 NIPAL4 609383 Ichthyosis, congenital, autosomal recessive 6 612281 LIPN 613924 Ichthyosis, congenital, autosomal recessive 8 613943 KRT1 139350 Ichthyosis, cyclic, with epidermolytic hyperkeratosis 607602 KRT10 148080 Ichthyosis, cyclic, with epidermolytic hyperkeratosis 607602 ELOVL4 605512 Ichthyosis, spastic quadriplegia and mental retardation 614457 STS 300747 Ichthyosis, X-linked 308100 CDSN 602593 Ichthyosis-hypotrichosis 146520 MBTPS2 300294 IFAP syndrome with or without BRESHECK syndrome 308205 CLDN1 603718 ILVASC 607626 COL14A1 120324 Keratoderma, palmoplantar, punctate type IB 614936 SAT1 313020 Keratosis follicularis spinulosa decalvans 308800 MBTPS2 300294 Keratosis follicularis spinulosa decalvans, X-linked 308800 POMP 613386 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 601952 GJB2 121011 KID syndrome 148210 SLURP1 606119 Mal de Meleda 248300 AP1S1 603531 MEDNIK syndrome 609313 SUMF1 607939 Multiple sulphatase deficiency 272200 JUP 173325 Naxos disease 601214 SPINK5 605010 Netherton syndrome 256500 KRT16 148067 Pachyonychia congenita type I (Jadassohn-Lewandowsky syndrome) 148067 KRT6A 148041 Pachyonychia congenita type I (Jadassohn-Lewandowsky syndrome) 167200 KRT17 148069 Pachyonychia congenita type II (Jackson-Lawler syndrome) 167210 KRT6B 148042 Pachyonychia congenita type II (Jackson-Lawler syndrome) 167210 AQP5 600442 Palmoplantar keratoderma, Bothnian type 600231 SERPINB7 603357 Palmoplantar keratosis, Nagashima type 615598 CTSC 602365 Papillon-Lefèvre syndrome 245000 TGM5 603805 Peeling skin syndrome, acral type 609796 TAT 613018 Richner-Hanhart syndrome, tyrosinaemia, type II 276600 ALDH3A2 609523 Sjögren-Larsson syndrome 270200 DSG1 125670 Striate palmoplantar keratoderma (PPKS1) 148700 DSP 125647 Striate palmoplantar keratoderma (PPKS2) 612908 ERCC2 126340 Trichothiodystrophy 601675 ERCC3 133510 Trichothiodystrophy 601675 GTF2H5 608780 Trichothiodystrophy 601675 MPLKIP 609188 Trichothiodystrophy, non-photosensitive 1 234050 RHBDF2 614404 Tylosis with oesophageal cancer 148500 LOR 152445 Vohwinkel syndrome (ichthyotic variant) 604117 MEDNIK = mental retardation, enteropathy, deafness, neuropathy, ichthyosis and keratoderma; ILVASC = ichthyosis, leucocyte vacuoles, alopecia and sclerosing cholangitis; KID = ker- atitis, ichthyosis and tion, ectodermal dysplasia, skeletal malformations, Hirschsprungdeafness; IFAP = ichthyosis follicularis, alopecia and photophobia; BRESHECK = brain anomalies, retarda-disease, ear/eye anomalies, cleft palate/cryptorchidism and kidney dysplasia/hypoplasia; CHILD = congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CEDNIK = cerebral dysgenesis, neuropathy, ichthyosis and keratoderma.