Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

A Hotz, C Fagerberg, A Vahlquist, A Bygum, H Törmä, M-A Rauschendorf, H Zhang, L Heinz, E Bourrat, I Hausser, V Vestergaard, A Dragomir, A D Zimmer, J Fischer

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Resumé

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.(1-6) Furthermore, seven patients from a large consanguineous family were described as ARCI due to a homozygous mutation in LIPN.(7) However, the first symptoms appeared only from the age of 5 years and the criterion of a congenital form of ichthyosis is not fulfilled. In this study we report the clinical and molecular findings of seven ARCI patients who carried five previously unreported mutations in SDR9C7. This article is protected by copyright. All rights reserved.

OriginalsprogEngelsk
TidsskriftBritish Journal of Dermatology
Vol/bind178
Udgave nummer3
Sider (fra-til)e207-e209
ISSN0007-0963
DOI
StatusUdgivet - mar. 2018

Fingeraftryk

Ichthyosis
Mutation

Citer dette

Hotz, A ; Fagerberg, C ; Vahlquist, A ; Bygum, A ; Törmä, H ; Rauschendorf, M-A ; Zhang, H ; Heinz, L ; Bourrat, E ; Hausser, I ; Vestergaard, V ; Dragomir, A ; Zimmer, A D ; Fischer, J. / Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. I: British Journal of Dermatology. 2018 ; Bind 178, Nr. 3. s. e207-e209.
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title = "Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis",
abstract = "Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.(1-6) Furthermore, seven patients from a large consanguineous family were described as ARCI due to a homozygous mutation in LIPN.(7) However, the first symptoms appeared only from the age of 5 years and the criterion of a congenital form of ichthyosis is not fulfilled. In this study we report the clinical and molecular findings of seven ARCI patients who carried five previously unreported mutations in SDR9C7. This article is protected by copyright. All rights reserved.",
keywords = "Adult, Aged, Female, Foot Dermatoses/genetics, Genes, Recessive, Hand Dermatoses/genetics, Heterozygote, Homozygote, Humans, Ichthyosis, Lamellar/genetics, Male, Mutation/genetics, Oxidoreductases/genetics",
author = "A Hotz and C Fagerberg and A Vahlquist and A Bygum and H T{\"o}rm{\"a} and M-A Rauschendorf and H Zhang and L Heinz and E Bourrat and I Hausser and V Vestergaard and A Dragomir and Zimmer, {A D} and J Fischer",
note = "This article is protected by copyright. All rights reserved.",
year = "2018",
month = "3",
doi = "10.1111/bjd.15994",
language = "English",
volume = "178",
pages = "e207--e209",
journal = "British Journal of Dermatology",
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Hotz, A, Fagerberg, C, Vahlquist, A, Bygum, A, Törmä, H, Rauschendorf, M-A, Zhang, H, Heinz, L, Bourrat, E, Hausser, I, Vestergaard, V, Dragomir, A, Zimmer, AD & Fischer, J 2018, 'Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis', British Journal of Dermatology, bind 178, nr. 3, s. e207-e209. https://doi.org/10.1111/bjd.15994

Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. / Hotz, A; Fagerberg, C; Vahlquist, A; Bygum, A; Törmä, H; Rauschendorf, M-A; Zhang, H; Heinz, L; Bourrat, E; Hausser, I; Vestergaard, V; Dragomir, A; Zimmer, A D; Fischer, J.

I: British Journal of Dermatology, Bind 178, Nr. 3, 03.2018, s. e207-e209.

Publikation: Bidrag til tidsskriftLetterForskningpeer review

TY - JOUR

T1 - Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

AU - Hotz, A

AU - Fagerberg, C

AU - Vahlquist, A

AU - Bygum, A

AU - Törmä, H

AU - Rauschendorf, M-A

AU - Zhang, H

AU - Heinz, L

AU - Bourrat, E

AU - Hausser, I

AU - Vestergaard, V

AU - Dragomir, A

AU - Zimmer, A D

AU - Fischer, J

N1 - This article is protected by copyright. All rights reserved.

PY - 2018/3

Y1 - 2018/3

N2 - Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.(1-6) Furthermore, seven patients from a large consanguineous family were described as ARCI due to a homozygous mutation in LIPN.(7) However, the first symptoms appeared only from the age of 5 years and the criterion of a congenital form of ichthyosis is not fulfilled. In this study we report the clinical and molecular findings of seven ARCI patients who carried five previously unreported mutations in SDR9C7. This article is protected by copyright. All rights reserved.

AB - Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.(1-6) Furthermore, seven patients from a large consanguineous family were described as ARCI due to a homozygous mutation in LIPN.(7) However, the first symptoms appeared only from the age of 5 years and the criterion of a congenital form of ichthyosis is not fulfilled. In this study we report the clinical and molecular findings of seven ARCI patients who carried five previously unreported mutations in SDR9C7. This article is protected by copyright. All rights reserved.

KW - Adult

KW - Aged

KW - Female

KW - Foot Dermatoses/genetics

KW - Genes, Recessive

KW - Hand Dermatoses/genetics

KW - Heterozygote

KW - Homozygote

KW - Humans

KW - Ichthyosis, Lamellar/genetics

KW - Male

KW - Mutation/genetics

KW - Oxidoreductases/genetics

U2 - 10.1111/bjd.15994

DO - 10.1111/bjd.15994

M3 - Letter

VL - 178

SP - e207-e209

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 3

ER -