Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

MedStar author(s):
Citation: American Journal of Medical Genetics. Part A. 2018 Oct 05PMID: 30289605Institution: MedStar Washington Hospital CenterDepartment: DermatologyForm of publication: Journal ArticleMedline article type(s): Case ReportsSubject headings: IN PROCESS -- NOT YET INDEXEDYear: 2018ISSN:
  • 1552-4825
Name of journal: American journal of medical genetics. Part AAbstract: Basan syndrome is an autosomal dominant ectodermal dysplasia (ED) with congenital adermatoglyphia, transient neonatal acral bullae, and congenital facial milia. Autosomal dominant adermatoglyphia (ADG) is characterized as adermatoglyphia with hypohidrosis. Recently mutations in the skin-specific isoform of the gene SMARCAD1 have been found in both syndromes. This report proposes to unify these two previously distinct ED, into one syndrome. We offer a new acronym: SMARCAD syndrome (SMARCAD1-associated congenital facial Milia, Adermatoglyphia, Reduced sweating, Contractures, Acral Bullae, and Dystrophy of nails). Sanger sequencing was performed on genomic DNA from a patient with Basan syndrome using primers designed to flank SMARCAD1. Sanger sequencing revealed a novel variant, NM_001254949.1:c.-10 + 2 T > G, in the donor splice site of exon 1 of the skin-specific isoform. This variant and the other five previously reported variants in Basan syndrome and ADG are all within the same donor splice site. We conclude that Basan syndrome and ADG are on a phenotypic spectrum of a monogenic syndrome which is better described by the acronym SMARCAD syndrome.Copyright (c) 2018 Wiley Periodicals, Inc.All authors: Ferreira CR, Kirkorian AY, Richard G, Solomon BD, Valentin MNFiscal year: FY2019Digital Object Identifier: ORCID: Date added to catalog: 2018-10-10
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Journal Article MedStar Authors Catalog Article 30289605 Available 30289605

Basan syndrome is an autosomal dominant ectodermal dysplasia (ED) with congenital adermatoglyphia, transient neonatal acral bullae, and congenital facial milia. Autosomal dominant adermatoglyphia (ADG) is characterized as adermatoglyphia with hypohidrosis. Recently mutations in the skin-specific isoform of the gene SMARCAD1 have been found in both syndromes. This report proposes to unify these two previously distinct ED, into one syndrome. We offer a new acronym: SMARCAD syndrome (SMARCAD1-associated congenital facial Milia, Adermatoglyphia, Reduced sweating, Contractures, Acral Bullae, and Dystrophy of nails). Sanger sequencing was performed on genomic DNA from a patient with Basan syndrome using primers designed to flank SMARCAD1. Sanger sequencing revealed a novel variant, NM_001254949.1:c.-10 + 2 T > G, in the donor splice site of exon 1 of the skin-specific isoform. This variant and the other five previously reported variants in Basan syndrome and ADG are all within the same donor splice site. We conclude that Basan syndrome and ADG are on a phenotypic spectrum of a monogenic syndrome which is better described by the acronym SMARCAD syndrome.

Copyright (c) 2018 Wiley Periodicals, Inc.

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