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Keratoderma and ichthyosis as valuable features for the diagnosis of CEDNIK syndrome.

作者信息

Lorenzo-Ríos Deyson, Guerrero-García Amara, Colón-Fontánez Francisco

机构信息

Department of Dermatology, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico.

School of Medicine, Universidad Central del Caribe, Bayamón, Puerto Rico.

出版信息

JAAD Case Rep. 2023 Sep 27;46:64-66. doi: 10.1016/j.jdcr.2023.09.005. eCollection 2024 Apr.

DOI:10.1016/j.jdcr.2023.09.005
PMID:38590735
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10999791/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26df/10999791/ed1c8bcea0ad/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26df/10999791/59a67e83d28d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26df/10999791/5ba17bf08915/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26df/10999791/ed1c8bcea0ad/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26df/10999791/59a67e83d28d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26df/10999791/5ba17bf08915/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/26df/10999791/ed1c8bcea0ad/gr3.jpg

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Keratoderma and ichthyosis as valuable features for the diagnosis of CEDNIK syndrome.掌跖角化病和鱼鳞病作为诊断CEDNIK综合征的重要特征。
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A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.编码参与细胞内运输的SNARE蛋白的SNAP29发生突变，会导致一种新型神经皮肤综合征，其特征为脑发育不全、神经病变、鱼鳞病和掌跖角化病。
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本文引用的文献

1
CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome with Brain Stem Malformation.伴有脑干畸形的脑发育不全、神经病、鱼鳞病和掌跖角化症（CEDNIK）综合征
Ann Indian Acad Neurol. 2021 Nov-Dec;24(6):979-981. doi: 10.4103/aian.AIAN_673_20. Epub 2020 Oct 7.
2
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.新一批患有CEDNIK综合征的患者扩展了表型和基因型谱。
Neurol Genet. 2021 Jan 12;7(1):e553. doi: 10.1212/NXG.0000000000000553. eCollection 2021 Feb.
3
mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome.
突变小鼠重现与 22q11 和 CEDNIK 综合征相关的神经和眼科异常。
Commun Biol. 2019 Oct 11;2:375. doi: 10.1038/s42003-019-0601-5. eCollection 2019.
4
CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene.一名印度患者患有携带SNAP29基因新突变的CEDNIK综合征。
Pediatr Dermatol. 2019 May;36(3):372-376. doi: 10.1111/pde.13761. Epub 2019 Feb 22.
5
A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development.斑马鱼 CEDNIK 综合征的遗传模型突出了 SNARE 蛋白 Snap29 在神经运动和表皮发育中的作用。
Sci Rep. 2019 Feb 4;9(1):1211. doi: 10.1038/s41598-018-37780-4.
6
CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.CEDNIK：另一例患者的表型和分子特征及文献综述
Child Neurol Open. 2017 Oct 8;4:2329048X17733214. doi: 10.1177/2329048X17733214. eCollection 2017 Jan-Dec.
7
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.分子检测在鱼鳞病多学科诊断方法中的作用。
Orphanet J Rare Dis. 2016 Jan 13;11:4. doi: 10.1186/s13023-016-0384-4.
8
CEDNIK syndrome results from loss-of-function mutations in SNAP29.CEDNIK 综合征是由 SNAP29 的功能丧失性突变引起的。
Br J Dermatol. 2011 Mar;164(3):610-6. doi: 10.1111/j.1365-2133.2010.10133.x. Epub 2011 Feb 17.
9
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.编码参与细胞内运输的SNARE蛋白的SNAP29发生突变，会导致一种新型神经皮肤综合征，其特征为脑发育不全、神经病变、鱼鳞病和掌跖角化病。
Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20.
10
SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons.SNAP-29介导的培养海马神经元突触传递调节
J Biol Chem. 2005 Jul 8;280(27):25769-79. doi: 10.1074/jbc.M502356200. Epub 2005 May 12.