Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

Published on Jul 31, 2015in F1000Research
· DOI :10.12688/F1000RESEARCH.6779.1
Aayush Gupta5
Estimated H-index: 5
 , Yugal K Sharma8
Estimated H-index: 8
 + 6 AuthorsSridhar Sivasubbu25
Estimated H-index: 25
 (Institute of Genomics and Integrative Biology)
Sources
Abstract
Gupta et al. focused on two siblings with ARCI with confirmed TGM1 mutation. In addition they found 22q12 duplication in these siblings and in their father. The title and abstract are both appropriate for the article, and the abstract is a suitable summary. The diagnosis has been sufficiently described, however it is a little bit unclear whether the 22q12 duplication is associated with the ARCI. The authors mention the cat eye syndrome which is related to the duplication of the chromosome 22q12. What about the relevance of this finding? It should be worked out in more detail. I have read this submission. I believe that I have an appropriate level of expertise to confirm that it is of an acceptable scientific standard.
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Summary Background Subtypes of inherited epidermolysis bullosa (EB) vary significantly in their clinical presentation and prognosis. Establishing an accurate diagnosis is important for genetic counselling and patient management. Current approaches in EB diagnostics involve skin biopsy for immunohistochemistry and transmission electron microscopy, and Sanger sequencing of candidate genes. Although informative in most cases, this approach can be expensive and laborious and may fail to identify pat...
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Background Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. Objective We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. Methods The classification project started a...
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Summary Background. Autosomal recessive lamellar ichthyosis (LI) is a severe skin disorder characterized by generalized hyperkeratosis. Gene mutation in transglutaminase 1 (TGM1), which mediates cross-links in the formation of the cell envelope during terminal differentiation of epidermis, has been identified as a cause of LI. Objectives. To determine mutations of TGM1 gene in three Chinese families with LI. Methods. The TGM1 gene was sequenced to identify disease-causing mutations in the three ...
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Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the US. TGM1 encodes for the TGase-1 enzyme that functions in the formation of the cornified cell envelope. We review the clinical manifestations as well as the molecular genetics of ARCI. In addition, we characterized 115 TGM1 mutations reported in 234 patients from diverse racial and ethnic backgrounds (Caucasion Americans, No...
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Summary Autosomal recessive congenital ichthyosis (ARCI) is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, lamellar ichthyosis (LI) and nonbullous congenital ichthyosi-formis erythroderma (CIE). Recently, strong evidence for the involvement of the transglutaminase 1 gene (TGM1) in LI has evolved. We have studied ARCI in the isolated Finnish population, in which recessive disorders are often caused by single mutations enriched by a founde...
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