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一名具有基因变异患者的发育迟缓、面部特征粗糙及癫痫

Developmental delay, coarse facial features, and epilepsy in a patient with gene variants.

作者信息

Gupta Aditi, Ewing Sarah A, Renaud Deborah L, Hasadsri Linda, Raymond Kimiyo M, Klee Eric W, Gavrilova Ralitza H

机构信息

Center for Individualized Medicine Mayo Clinic Rochester Minnesota.

Department of Health Sciences Research Mayo Clinic Rochester Minnesota.

出版信息

Clin Case Rep. 2019 Feb 19;7(4):632-637. doi: 10.1002/ccr3.2010. eCollection 2019 Apr.

DOI:10.1002/ccr3.2010
PMID:30997052
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6452521/
Abstract

We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to compound heterozygous likely pathogenic variants. This case report expands the gene mutation database and the clinical spectrum of patients with deficiencies in the heparan sulfate pathway.

摘要

我们报告了一名因复合杂合性可能致病变异而患有发育迟缓、自闭症、癫痫、巨头畸形、面部畸形、胃肠道问题和行为问题的患者。本病例报告扩展了基因突变数据库以及硫酸乙酰肝素途径缺陷患者的临床谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/306f/6452521/7b967c2f82a7/CCR3-7-632-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/306f/6452521/7b967c2f82a7/CCR3-7-632-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/306f/6452521/7b967c2f82a7/CCR3-7-632-g001.jpg

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本文引用的文献

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CADD: predicting the deleteriousness of variants throughout the human genome.CADD：预测整个人类基因组中变异的有害性。
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894. doi: 10.1093/nar/gky1016.
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Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.家族性常染色体隐性外显子 2 相关综合征中新型外显子 2 错义变异：表型的进一步证据。
Clin Genet. 2019 Jan;95(1):165-171. doi: 10.1111/cge.13458. Epub 2018 Oct 24.
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A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).
在一个患有严重发育迟缓、小头畸形、癫痫、喂养困难和骨质减少的近亲家庭中发现了一种新的EXT2突变，这扩展了常染色体隐性EXT2相关综合征（AREXT2）的表型谱。
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4
A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.一名患有发育迟缓、共济失调、颅神经麻痹且在婴儿期有严重呼吸问题的女孩——扩展性NDST1综合征。
Am J Med Genet A. 2017 Mar;173(3):712-715. doi: 10.1002/ajmg.a.37621.
5
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.M-CAP 以高灵敏度消除临床外显子组中大多数意义不明的变异。
Nat Genet. 2016 Dec;48(12):1581-1586. doi: 10.1038/ng.3703. Epub 2016 Oct 24.
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Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
7
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.PredictSNP2：一个通过利用不同基因组区域变异的不同特征来准确评估单核苷酸多态性（SNP）效应的统一平台。
PLoS Comput Biol. 2016 May 25;12(5):e1004962. doi: 10.1371/journal.pcbi.1004962. eCollection 2016 May.
8
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J Med Genet. 2015 Oct;52(10):666-75. doi: 10.1136/jmedgenet-2015-103279. Epub 2015 Aug 5.
9
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
10
NDST1 missense mutations in autosomal recessive intellectual disability.常染色体隐性智力障碍中的NDST1错义突变
Am J Med Genet A. 2014 Nov;164A(11):2753-63. doi: 10.1002/ajmg.a.36723. Epub 2014 Aug 14.