Mutation update for CYP4F22 CYP4F22 variants associated with autosomal recessive congenital ichthyosis

Hotz Alrun; Bourrat Emmanuelle; Küsel Julia; Oji Vinzenz; Alter Svenja; Hake Lisanne; Korbi Mouna; Ott Hagen; Hausser Ingrid; Zimmer Andreas D; Fischer Judith

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Mutation update for CYP4F22 CYP4F22 variants associated with autosomal recessive congenital ichthyosis

机译：CYP4F22 CYP4F22的突变更新与常染色体隐性先天性病症相关的变体

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Abstract Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin. Ten genes are currently known to be associated with ARCI: TGM1 , ALOXE3 , ALOX12B , NIPAL4 ( ICHTHYIN ), ABCA12 , CYP4F22 , PNPLA1 , CERS3 , SDR9C7 , and SULT2B1 . Over a period of 22 years, we have studied a large patient cohort from 770 families with a clinical diagnosis of ARCI. Since the first report that mutations in the gene CYP4F22 are causative for ARCI in 2006, we have identified 54 families with pathogenic mutations in CYP4F22 including 23 previously unreported mutations. In this report, we provide an up‐to‐date overview of all published and novel CYP4F22 mutations and point out possible mutation hot spots. We discuss the molecular and clinical findings, the genotype–phenotype correlations and consequences on genetic testing.

机译：摘要常染色体隐性遗传先天性鱼鳞病（ARCI）是一组罕见的角质化疾病，其特征是皮肤出现广泛的异常鳞屑。目前已知与ARCI相关的十个基因：TGM1、Alox3、ALOX12B、NIPAL4（ICHTHYIN）、ABCA12、CYP4F22、PNPLA1、CERS3、SDR9C7和SULT2B1。在22年的时间里，我们研究了770个临床诊断为ARCI的家庭的大型患者队列。自2006年首次报道CYP4F22基因突变导致ARCI以来，我们已经确定了54个CYP4F22致病性突变家族，包括23个以前未报告的突变。在本报告中，我们提供了所有已发表和新的CYP4F22突变的最新概述，并指出了可能的突变热点。我们讨论了分子和临床发现、基因型-表型相关性以及对基因检测的影响。

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来源
《Human mutation》 |2018年第10期|共9页
作者
Hotz Alrun; Bourrat Emmanuelle; Küsel Julia; Oji Vinzenz; Alter Svenja; Hake Lisanne; Korbi Mouna; Ott Hagen; Hausser Ingrid; Zimmer Andreas D; Fischer Judith;
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作者单位

Faculty of MedicineUniversity of FreiburgFreiburg Germany;

Centre de Référence des GénodermatosesH?pital Saint‐LouisParis France;

Faculty of MedicineUniversity of FreiburgFreiburg Germany;

Department of DermatologyUniversity HospitalMünster Germany;

Faculty of MedicineUniversity of FreiburgFreiburg Germany;

Department of DermatologyUniversity HospitalMünster Germany;

Department of DermatologyH?pital Saint‐LouisParis France;

Division of Pediatric Dermatology and AllergologyChildren's Hospital Auf der BultHanover Germany;

Institute of PathologyHeidelberg University HospitalHeidelberg Germany;

Faculty of MedicineUniversity of FreiburgFreiburg Germany;

Faculty of MedicineUniversity of FreiburgFreiburg Germany;

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正文语种 eng
中图分类医学遗传学;
关键词
autosomal recessive congenital ichthyosis (ARCI); collodion baby; CYP4F22; lamellar ichthyosis;

机译：常染色体隐性先天性ICHththyosis（Arci）;胶带婴儿;CYP4F22;LAPELLAR ICHTHYOSION;

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2. A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia [J] . Nan Li, Xiang Li, Xiao-Lin Ni, 中华医学杂志（英文版） . 2021,第015期
3. Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families [J] . Xiao-ya ZHANG, Jin-wei HE, Wen-zhen FU, 中国药理学报：英文版 . 2017,第011期
4. Mutation update for CYP4F22 CYP4F22 variants associated with autosomal recessive congenital ichthyosis [J] . Hotz Alrun, Bourrat Emmanuelle, Küsel Julia, Human mutation . 2018,第10期

机译：CYP4F22 CYP4F22的突变更新与常染色体隐性先天性病症相关的变体
5. Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations [J] . Gruber R., Rainer G., Weiss A., British Journal of Dermatology . 2017,第4期

机译：两种兄弟姐妹的形态学改变，具有CYP4F22突变相关的常染色体隐性先天性化学性化学病
6. Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby [J] . Noguera-Morel Lucero, Feito-Rodriguez Marta, Maldonado-Cid Paola, Pediatric dermatology . 2016,第2期

机译：CYP4F22突变导致常染色体隐性遗传性先天性鱼鳞病2例：扩大自我愈合胶棉婴儿的基因型
7. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations [C] . Eric Guaguere, Anne Thomast, Anais Grail, World Congress of Veterinary Dermatology . 2013

机译：金毛犬常染色体隐性的IChthyosisis：PNPLA1突变等位基因在不同种群中的分布和频率
8. Autosomal Recessive Variants in Intellectual Disability and Autism Spectrum Disorder [D] . Harripaul, Ricardo Simeon. 2021

机译：智能疾病和自闭症谱系血型术中的常染色体隐性变体
9. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303CT founder mutation [O] . Uxia Esperón-Moldes, Manuel Ginarte-Val, Laura Rodríguez-Pazos, 2020

机译：与常染色体隐性先天性鱼鳞病（ARCI）相关的新CYP4F22突变。 CYP4F22 c.1303C T缔造者突变的研究
10. Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations [O] . Gruber R., Rainer G., Weiss A., 2017

机译：伴有CYp4F22突变的常染色体隐性遗传性先天性鱼鳞病的两个兄弟姐妹的形态学改变
11. Lack of an Autosomal Recessive Genetic Influence in Vertical Transmission of Hepatitis B Antigen. [R] . Stevens, C. E., Beasley, R. P. 1975

机译：缺乏常染色体隐性遗传对乙型肝炎抗原垂直传播的影响。

Mutation update for CYP4F22 CYP4F22 variants associated with autosomal recessive congenital ichthyosis

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