Ichthyosis fetalis in a cross‐bred lamb

Câmara, Antônio Carlos Lopes; Borges, Pedro Augusto Cordeiro; Paiva, Silvano Alves; Pierezan, Felipe; Soto-Blanco, Benito

doi:10.1111/vde.12459

Cited by 1 publication

(1 citation statement)

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“…In domestic animals, ichthyosis has been described in dogs (Credille et al 2009;Grall et al 2012;Metzger et al 2015;Bauer et al 2017;Casal et al 2017), pigs (Wang et al 2019), sheep (Câmara et al 2017) and cattle (Charlier et al 2008;Woolley et al 2019;Eager et al 2020). Furthermore, it has also been reported in greater kudu calves (Chittick et al 2002).…”

Section: Introductionmentioning

confidence: 99%

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle

et al. 2021

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The aim of this study was to characterize the phenotype and to identify the genetic etiology of a syndromic form of ichthyosis congenita (IC) observed in Italian Chianina cattle and to estimate the prevalence of the deleterious allele in the population. Sporadic occurrence of different forms of ichthyosis including IC have been previously reported in cattle. However, so far, no causative genetic variant has been found for bovine IC. Nine affected cattle presenting congenital xerosis, hyperkeratosis and scaling of the skin as well as urolithiasis and cystitis associated with retarded growth were examined. Skin histopathology revealed a severe, diffuse orthokeratotic hyperkeratosis with mild to moderate epidermal hyperplasia. The pedigree records indicated a monogenic recessive trait. Homozygosity mapping and whole-genome sequencing allowed the identification of a homozygous frameshift 1 bp insertion in the FA2H gene (c.9dupC; p.Ala4ArgfsTer142) located in a 1.92 Mb shared identical-by-descent region on chromosome 18 present in all cases, while the parents were heterozygous as expected for obligate carriers. These findings enable the selection against this sub-lethal allele showing an estimated frequency of ~ 7.5% in Chianina top sires. A sporadic incidence of mild clinical signs in the skin of heterozygous carriers was observed. So far, pathogenic variants affecting the encoded fatty acid 2-hydroxylase catalyzing the synthesis of 2-hydroxysphingolipids have been associated with myelin disorders. In conclusion, this study represents the first report of an FA2H-related autosomal recessive inherited skin disorder in a mammalian species and adds FA2H to the list of candidate genes for ichthyosis in humans and animals. Furthermore, this study provides a DNA-based diagnostic test that enables selection against the identified pathogenic variant in the Chianina cattle population. However, functional studies are needed to better understand the expression of FA2H in IC-affected Chianina cattle.

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