Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

Heinz, Lisa; Kim, Gwang Jin; Marrakchi, Slaheddine; Christiansen, Julie; Turki, H.; Rauschendorf, Marc-Alexander; Lathrop, Mark; Haußer, Ingrid; Zimmer, Andreas; Fischer, Judith

doi:10.1016/j.ajhg.2017.05.007

Cited by 69 publications

(61 citation statements)

References 65 publications

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“…Activators of LXR and PPAR, both of which stimulate keratinocyte differentiation in addition to controlling cholesterol metabolism, also regulate cholesterol sulphotransferase type 2B isoform 1b (SULT2B1b), an enzyme involved in CS synthesis . Mutation in SULT2B1b leads to a congenital ichthyosis, in this case autosomal‐recessive congenital ichthyosis …”

Section: Cholesterol Function In Keratinocyte Cell Biology Provides Lmentioning

confidence: 99%

Cholesterol homeostasis: Links to hair follicle biology and hair disorders

Palmer

Blakeborough

Harries

et al. 2019

Experimental Dermatology

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Lipids and lipid metabolism are critical factors in hair follicle (HF) biology, and cholesterol has long been suspected of influencing hair growth. Altered cholesterol homeostasis is involved in the pathogenesis of primary cicatricial alopecia, mutations in a cholesterol transporter are associated with congenital hypertrichosis, and dyslipidaemia has been linked to androgenic alopecia. The underlying molecular mechanisms by which cholesterol influences pathways involved in proliferation and differentiation within HF cell populations remain largely unknown. As such, expanding our knowledge of the role for cholesterol in regulating these processes is likely to provide new leads in the development of treatments for disorders of hair growth and cycling. This review describes the current state of knowledge with respect to cholesterol homeostasis in the HF along with known and putative links to hair pathologies.

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Section: Cholesterol Function In Keratinocyte Cell Biology Provides Lmentioning

confidence: 99%

Cholesterol homeostasis: Links to hair follicle biology and hair disorders

Palmer

Blakeborough

Harries

et al. 2019

Experimental Dermatology

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“…Most babies are born with a collodion membrane . Twelve causative genes for ARCI are known currently .…”

Section: Introductionmentioning

confidence: 99%

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017

Seidl‐Philipp

Schatz

Gasslitter

et al. 2019

J Deutsche Derma Gesell

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Summary Background Ichthyoses are a heterogeneous disease group, which makes clinical classification challenging. An ichthyosis cohort at a center for genodermatoses is presented in detail. Patients and Methods Patients with clinically and/or genetically confirmed ichthyosis seen from 2004 to 2017 and listed in a database were included. Disease onset, phenotype, histology, comorbidities and family history were described in detail. In genetically tested patients, the prevalence of various ARCI genes, ARCI phenotypes and syndromic ichthyoses, as well as genotype‐phenotype correlation and year/method of genetic testing was assessed. Results Of all 198 patients who were included in the cohort, 151 were genetically tested. 81 had ichthyosis vulgaris, 43 X‐linked ichthyosis, 38 autosomal recessive congenital ichthyosis (ARCI), 9 keratinopathic ichthyosis (KPI) and one exfoliative ichthyosis. 26 individuals suffered from syndromic ichthyoses. A good genotype‐phenotype correlation was observed for common ichthyoses and KPI; the correlation was less good in syndromic ichthyoses. In 91 % of ARCI patients an accurate diagnosis was obtained by genetic testing. In only 33 % of syndromic ichthyoses was the definitive diagnosis suspected before genetic testing, which revealed a causative mutation in 86 % of cases. Conclusion This study describes the spectrum of ichthyoses in a center of expertise and shows that genetic testing should become a diagnostic standard for this disease group.

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“…ARCI is caused by mutations in any of the following known genes: TGM1 , ALOXE3 , ALOX12B , ABCA12 , CYP4F22 , CERS3 , NIPAL4 , PNPLA1 , SDR9C7 , LIPN , SLC27A4 and SULT2B1 . Additionally, mutations in ELOVL4 , GBA , GJB2 , CLDN1 , SPINK5 , STS , FLG , KRT1 , KRT10 and KRT2 can cause similar ichthyosis phenotypes .…”

Section: Introductionmentioning

confidence: 99%

Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

Zhang

Ericsson

Weström

et al. 2018

Experimental Dermatology

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Autosomal recessive congenital ichthyosis (ARCI) is a group of monogenic skin disorders caused by mutations in any of at least 12 different genes, many of which are involved in the epidermal synthesis of ω‐O‐acylceramides (acylCer). AcylCer are essential precursors of the corneocyte lipid envelope crosslinked by transglutaminase‐1 (TGm‐1), or a yet unidentified enzyme, for normal skin barrier formation. We hypothesized that inactivating TGM1 mutations will lead to a compensatory overexpression of the transcripts involved in skin barrier repair, including many other ARCI‐causing genes. Using microarray, we examined the global mRNA expression profile in skin biopsies from five ARCI patients with TGM1 mutations and four healthy controls. There were a total of 599 significantly differentially expressed genes (adjusted P < 0.05), out of which 272 showed more than 1.5 log2fold‐change (FC) up‐ or down‐regulation. Functional classification of the latter group of transcripts showed enrichment of mRNA encoding proteins mainly associated with biological pathways involved in keratinocyte differentiation and immune response. Moreover, the expression of seven out of twelve ARCI‐causing genes was significantly increased (FC = 0.98‐2.05). Also, many of the genes involved in keratinocyte differentiation (cornified envelope formation) and immune response (antimicrobial peptides and proinflammatory cytokines) were upregulated. The results from the microarray analysis were also verified for selected genes at the mRNA level by qPCR and at the protein level by semi‐quantitative immunofluorescence. The upregulation of these genes might reflect a compensatory induction of acylCer biosynthesis as a part of a global barrier repair response in the patient′s epidermis.

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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

Cited by 69 publications

References 65 publications

Cholesterol homeostasis: Links to hair follicle biology and hair disorders

Cholesterol homeostasis: Links to hair follicle biology and hair disorders

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017

Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

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