Mutation update for <i>CYP4F22</i>
 variants associated with autosomal recessive congenital ichthyosis

Hotz, Alrun; Bourrat, E.; Küsel, J.; Oji, Vinzenz; Alter, Svenja; Hake, Lisanne; Korbi, M.; Ott, Hagen; Haußer, Ingrid; Zimmer, Andreas; Fischer, Judith

doi:10.1002/humu.23594

Cited by 27 publications

(34 citation statements)

References 30 publications

(68 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Within the non‐syndromic forms, the group caused by keratin mutations is referred to by the term ‘keratinopathic ichthyosis’, whereas ‘autosomal recessive congenital ichthyosis’ (‘ARCIs’) is an umbrella term for harlequin ichthyosis, lamellar ichthyosis and the congenital ichthyosiform erythroderma group. In the ARCI group, the genetic background is variable with until now more than 10 genes known to be involved . Recessive X‐linked ichthyosis (RXLI) exists in a syndromic as well as a non‐syndromic form and is, in its non‐syndromic form together with ichthyosis vulgaris, comprised in the group of the ‘common ichthyoses’.…”

Section: Introductionmentioning

confidence: 99%

“…In the ARCI group, the genetic background is variable with until now more than 10 genes known to be involved. 2 Recessive X-linked ichthyosis (RXLI) exists in a syndromic as well as a non-syndromic form and is, in its non-syndromic form together with ichthyosis vulgaris, comprised in the group of the 'common ichthyoses'. The fourth group of non-syndromic ichthyosis is referred to as 'other forms' and includes rare variants.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Burden of itch in ichthyosis: a multicentre study in 94 patients

Palma

Mazereeuw‐Hautier

Giehl

et al. 2019

Acad Dermatol Venereol

View full text Add to dashboard Cite

Background From clinical experience, we know that itch is a major concern for many ichthyosis patients. Nonetheless, no previous studies specifically addressed the issue of itch in ichthyosis. Objective The objective of this study was to specifically address the burden of itch and all its dimensions in ichthyosis patients. Methods Ninety‐four ichthyosis patients from four different centres were recruited to participate in this cross‐sectional, questionnaire‐based study. All participants completed the Leuven Itch Scale, a multidimensional self‐report instrument that quantifies the frequency, duration, severity, distress, consequences and surface area of itch. Results Participants included 18 keratinopathic types, 55 autosomal recessive congenital ichthyoses, 11 X‐linked recessive ichthyoses (XLRIs), 6 Netherton's ichthyoses, 1 Sjögren–Larsson type, 1 Iocrin ichthyosis and 2 unknown subtypes. Itch occurred in 93% of all patients. In patients with itch, 63% reported that it was often or always present, although most itch episodes were short in duration. Itch, in all its dimensions, was worst in patients with Netherton syndrome. Patients with XLRI had in general a lower itch profile. About half of all ichthyosis patients reported to experience flares during a change in weather, in a hot environment or in stressful situations, whereas a cold environment led to itch in only 26% of patients. The most significant consequences of itching were lesions from scratching, difficulties in falling asleep, bad mood and loss of concentration. Conclusions Itch is a major concern in patients with ichthyosis, with significant impact on daily life. Research on future treatments should therefore take itch into consideration and itch should be evaluated in clinical studies. Among the studied subgroups, Netherton patients experienced the most severe consequences.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Burden of itch in ichthyosis: a multicentre study in 94 patients

Palma

Mazereeuw‐Hautier

Giehl

et al. 2019

Acad Dermatol Venereol

View full text Add to dashboard Cite

show abstract

“…Furthermore, the entire body, especially the head, was covered with yellow-green scales of varying size, which were firmly attached to the substrate. Otherwise, the pathohistological finding [11], ALOXE3 [12], ALOX12B [13], NIPAL4 [14,15], and CYP4F22 [16] xerostomia, and hyperkeratotic plaques on the tongue [1,6,18].…”

Section: Methodsmentioning

confidence: 99%

Erythrodermia Ichtyosis Formis Congenital - Case Report

Ambarkova¹,

Zisovska²,

Kalcev³

et al. 2019

Act Scie Dental

View full text Add to dashboard Cite

show abstract

“…We could also see differences in the estimates from the three single marker methods, depending on the algorithm applied: 26 generations (95% CI 13-40) for Bergman´s estimator, 39 generations (95% CI 24-54) according to Risch´s estimator and 23 generations (95% CI 10-37) with Yan´s equation. By averaging the estimates of all methods, the TMRCA of c.1303C>T mutation carrier patients with Spanish ancestry would date back 29 (95% CI [23][24][25][26][27][28][29][30][31][32][33][34][35] generations. Assuming an average generation time of 25 years, this would mean that carrier families derived from a common ancestor who lived approximately 725 years ago (Table 3).…”

Section: Haplotype Construction and Tmrca Estimationmentioning

confidence: 99%

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

et al. 2020

View full text Add to dashboard Cite

Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multigene targeted NGS panel. From these, eight ARCI families (three of them with Moroccan origin) were found to carry five different CYP4F22 mutations, of which two were novel. Computational analysis showed that the mutations found were present in highly conserved residues of the protein and may affect its structure and function. Seven of the eight families were carriers of a highly recurrent CYP4F22 variant, c.1303C>T; p.(His435Tyr). A 12Mb haplotype was reconstructed in all c.1303C>T carriers by genotyping ten microsatellite markers flanking the CYP4F22 gene. A prevalent 2.52Mb haplotype was observed among Spanish carrier patients suggesting a recent common ancestor. A smaller core haplotype of 1.2Mb was shared by Spanish and Moroccan families. Different approaches were applied to estimate the time to the most recent common ancestor (TMRCA) of carrier patients with Spanish origin. The age of the mutation was calculated by using DMLE and BDMC2. The algorithms estimated that the c.1303C>T variant arose approximately 2925 to 4925 years ago, while Spanish carrier families derived from a common ancestor who lived in the XIII century. The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry.

show abstract

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

Cited by 27 publications

References 30 publications

Burden of itch in ichthyosis: a multicentre study in 94 patients

Burden of itch in ichthyosis: a multicentre study in 94 patients

Erythrodermia Ichtyosis Formis Congenital - Case Report

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

Contact Info

Product

Resources

About