Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

Wright, J. Timothy; Fete, Mary; Schneider, Holm; Zinser, Madelaine; Koster, Maranke I.; Clarke, Angus; Hadj‐Rabia, S.; Tadini, Gianluca; Pagnan, Nina Amália Brancia; Visinoni, Átila Fernando; Bergendal, Birgitta; Abbott, Becky; Fete, Timothy J.; Stanford, Clark M.; Butcher, Clayton; D’Souza, Rena N.; Sybert, Virginia P.; Morasso, María I.

doi:10.1002/ajmg.a.61045

Cited by 115 publications

(137 citation statements)

References 29 publications

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“…A majority of breeds were developed after the World Wars and several are defined by interesting coat DNA variants, such as the Cornish rex [ 8 ], Devon rex, sphynx [ 9 ], and the Selkirk rex [ 10 , 11 ]. These coat mutations are innocuous in the cat, but the same genes for atrichia and hypotrichia cause ectodermal dysplasias in humans [ 12 , 13 , 14 , 15 ] and other species [ 16 , 17 , 18 , 19 , 20 , 21 , 22 ]. However, some cat coat and fur types are associated with maladies.…”

Section: Introductionmentioning

confidence: 99%

Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

Buckley

Gandolfi

Creighton

et al. 2020

Genes

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A variety of cat breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed breed, the lykoi (a.k.a. werewolf cat), was bred from cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as a significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi cats suggested two variants in the cat homolog for Hairless (HR) (HR lysine demethylase and nuclear receptor corepressor) as candidate causal gene variants. The lykoi cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse cats. The novel variants in HR for cat hypotrichia can now be established between minor differences in the phenotypic presentations.

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Section: Introductionmentioning

confidence: 99%

Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

Buckley

Gandolfi

Creighton

et al. 2020

Genes

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“…A majority of breeds were developed after the World Wars and several are defined by interesting coat DNA variants, such as the Cornish rex [8], Devon rex, sphynx [9], and the Selkirk rex [10,11]. These coat mutations are innocuous in the cat, but the same genes for atrichia and hypotrichia cause ectodermal dysplasias in humans [12–15] and other species [16–22]. However, some cat coat and fur types are associated with maladies.…”

Section: Introductionmentioning

confidence: 99%

Werewolf, there wolf: variants inHairlessassociated with hypotrichia and roaning in the lykoi cat breed

Buckley

Gandolfi

Creighton

et al. 2020

Preprint

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A variety of cat breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed breed, the lykoi, was bred from cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi cats suggested two variants in the cat homolog for Hairless (HR: lysine demethylase and nuclear receptor corepressor) as candidate causal variants. The lykoi cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse cats. The novel variants in HR for cat hypotrichia can now be established between minor differences in the phenotypic presentations.

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“…Ectodermal dysplasias (ED) are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails and certain glands …”

Section: Introductionmentioning

confidence: 99%

P63‐related disorders: Dermatological characteristics in 22 patients

Maillard

Alby

Gabison

et al. 2019

Experimental Dermatology

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In P63‐related ectodermal dysplasias (ED), the clinical characteristics focus on extra‐cutaneous manifestations. The dermatological phenotype remains incompletely characterized. We report the dermatological features of 22 patients carrying a TP63 mutation. Erosions, erythroderma and pigmentary anomalies are characteristics of P63‐related ED. Our data suggest that patients might be classified into two major P63‐related disorders: AEC and EEC. RHS and ADULT represent mild AEC and EEC forms, respectively.

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Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

Cited by 115 publications

References 29 publications

Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

Werewolf, there wolf: variants inHairlessassociated with hypotrichia and roaning in the lykoi cat breed

P63‐related disorders: Dermatological characteristics in 22 patients

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