在一名患有舍格伦-拉松综合征的韩国男孩中鉴定出ALDH3A2基因的纯合可能致病变异体。 - Suppr

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Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome.

作者信息

Kim Je Yeon, Kim Shin Hye, Park Mi Jung, Kim Soung Hee, Cho Woo Ho, Choi Jin, Ki Chang Seok, You Su Jeong

机构信息

Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.

Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2018 Jan;38(1):80-82. doi: 10.3343/alm.2018.38.1.80.

DOI:10.3343/alm.2018.38.1.80

PMID:29071827

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5700155/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb99/5700155/e1ef714d4486/alm-38-80-g001.jpg

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Am J Ophthalmol. 2000 Dec;130(6):782-9. doi: 10.1016/s0002-9394(00)00576-6.

A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome.

J Invest Dermatol. 2000 May;114(5):1065-6. doi: 10.1046/j.1523-1747.2000.00960-5.x.

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

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Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome.

作者信息

Kim Je Yeon, Kim Shin Hye, Park Mi Jung, Kim Soung Hee, Cho Woo Ho, Choi Jin, Ki Chang Seok, You Su Jeong

机构信息

Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.

Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.

出版信息

Ann Lab Med. 2018 Jan;38(1):80-82. doi: 10.3343/alm.2018.38.1.80.

DOI:10.3343/alm.2018.38.1.80

PMID:29071827

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5700155/

Abstract

摘要

相似文献

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome.

Ann Lab Med. 2018 Jan;38(1):80-82. doi: 10.3343/alm.2018.38.1.80.

Compound heterozygous mutations in the gene cause Sjögren-Larsson syndrome: a case report.

Int J Neurosci. 2020 Nov;130(11):1156-1160. doi: 10.1080/00207454.2020.1716750. Epub 2020 Jan 29.

A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome.

J Dermatol Sci. 2008 Nov;52(2):136-8. doi: 10.1016/j.jdermsci.2008.06.006. Epub 2008 Aug 5.

Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.

Turk J Pediatr. 2012 Jan-Feb;54(1):64-6.

[Sjögren-Larsson syndrome: Pediatric case report].

Arch Argent Pediatr. 2018 Dec 1;116(6):e773-e777. doi: 10.5546/aap.2018.e773.

Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome.

J Invest Dermatol. 2006 Nov;126(11):2545-7. doi: 10.1038/sj.jid.5700453. Epub 2006 Jun 22.

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.

J Dermatol. 2015 Jul;42(7):706-9. doi: 10.1111/1346-8138.12861. Epub 2015 Apr 9.

Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.

Arch Dermatol Res. 2019 Nov;311(9):721-730. doi: 10.1007/s00403-019-01953-6. Epub 2019 Aug 6.

Clinical and molecular characterization and response to acitretin in three families with Sjögren-Larsson syndrome.

Int J Dermatol. 2018 Jul;57(7):843-848. doi: 10.1111/ijd.14013. Epub 2018 Apr 27.

Sjögren-Larsson syndrome: optical coherence tomography and a novel mutation.

Arch Soc Esp Oftalmol. 2014 Dec;89(12):504-7. doi: 10.1016/j.oftal.2013.11.010. Epub 2013 Dec 27.

引用本文的文献

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Hum Mutat. 2019 Feb;40(2):177-186. doi: 10.1002/humu.23679. Epub 2018 Nov 26.

本文引用的文献

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.

Am J Hum Genet. 2017 Feb 2;100(2):267-280. doi: 10.1016/j.ajhg.2017.01.004. Epub 2017 Jan 26.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Mol Genet Metab. 2007 Jan;90(1):1-9. doi: 10.1016/j.ymgme.2006.08.006. Epub 2006 Sep 22.

Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.

Am J Ophthalmol. 2000 Dec;130(6):782-9. doi: 10.1016/s0002-9394(00)00576-6.

A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome.

J Invest Dermatol. 2000 May;114(5):1065-6. doi: 10.1046/j.1523-1747.2000.00960-5.x.

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Am J Hum Genet. 1999 Dec;65(6):1547-60. doi: 10.1086/302681.