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伴有舍格伦-拉松综合征的一个新的基因缺失的鉴定。

Identification of a novel deletion within with Sjögren-Larsson Syndrome.

作者信息

Taghdiri Maryam, Kashef Atie, Fardaei Majid, Miryounesi Mohammad

机构信息

Genetic counseling Center Welfare Organization ShirazIran.

Comprehensive Medical Genetics Center Shiraz University of Medical Sciences ShirazIran.

出版信息

Clin Case Rep. 2017 Nov 22;6(1):32-36. doi: 10.1002/ccr3.1235. eCollection 2018 Jan.

DOI:10.1002/ccr3.1235
PMID:29375833
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5771940/
Abstract

Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two-base-pair deletion within genomic sequence. Our finding expands the mutation spectrum of that is applicable for further molecular studies and management of SLS.

摘要

舍格伦-拉松综合征（SLS）是一种罕见的先天性鱼鳞病，伴有神经问题和智力残疾。已知该综合征由[相关基因]的纯合突变引起。在此，我们报告一个患有先天性SLS的伊朗家庭，其[相关基因]基因组序列中存在一个新的两个碱基对的缺失。我们的发现扩展了[相关基因]的突变谱，适用于SLS的进一步分子研究和管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a63e/5771940/ca252fa81c68/CCR3-6-32-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a63e/5771940/56479e941f67/CCR3-6-32-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a63e/5771940/ca252fa81c68/CCR3-6-32-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a63e/5771940/56479e941f67/CCR3-6-32-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a63e/5771940/ca252fa81c68/CCR3-6-32-g002.jpg

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本文引用的文献

1
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J Dermatol. 2015 Jul;42(7):706-9. doi: 10.1111/1346-8138.12861. Epub 2015 Apr 9.
2
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.一个守门人螺旋决定了干燥综合征酶脂肪醛脱氢酶的底物特异性。
Nat Commun. 2014 Jul 22;5:4439. doi: 10.1038/ncomms5439.
3
Sjögren-Larsson syndrome: importance of early diagnosis and aggressive physiotherapy.
舍格伦-拉尔森综合征：早期诊断及积极物理治疗的重要性
Dermatol Online J. 2012 Sep 15;18(9):11.
4
Large contiguous gene deletions in Sjögren-Larsson syndrome.干燥综合征-莱尔综合征中大片连续基因缺失。
Mol Genet Metab. 2011 Nov;104(3):356-61. doi: 10.1016/j.ymgme.2011.05.015. Epub 2011 May 30.
5
Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.干燥综合征-鱼鳞病综合征中的鱼鳞癣反映了由于板层小体结构和分泌异常导致的屏障功能缺陷。
Arch Dermatol Res. 2010 Aug;302(6):443-51. doi: 10.1007/s00403-009-1022-y. Epub 2010 Jan 5.
6
Sjögren-Larsson syndrome in two brothers: a case report.两兄弟患希约格伦-拉尔松综合征：病例报告
Cases J. 2009 Sep 9;2:8434. doi: 10.4076/1757-1626-2-8434.
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Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.舍格伦-拉松综合征：34例瑞典患者的临床症状及皮肤科治疗研究
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9
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