Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.

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Abstract

Among the approximately 8000 Mendelian disorders, >1000 have cutaneous manifestations. In many of these conditions, the underlying mutated genes have been identified by DNA-based techniques which, however, can overlook certain types of mutations, such as exonic-synonymous and deep-intronic sequence variants. Whole-transcriptome sequencing by RNA sequencing (RNA-seq) can identify such mutations and provide information about their consequences.

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Journal

Journal ID (iso-abbrev): Clin Chem

Title: Clinical chemistry

Publisher: Oxford University Press (OUP)

ISSN (Electronic): 1530-8561

ISSN (Print): 0009-9147

Publication date (Electronic): June 01 2021

Volume: 67

Issue: 6

Affiliations

[1 ] Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.

[2 ] Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.

[3 ] Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.

[4 ] Laboratory of Complex Biological Systems and Bioinformatics, Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran.

[5 ] Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran.

[6 ] Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

[7 ] Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.

[8 ] Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, United States of America.

[9 ] Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.

[10 ] Kawsar Human Genetics Research Center, Tehran, Iran.

[11 ] Cancer Genomics and Bioinformatics, Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, USA.

[12 ] Department of Translation and Precision Medicine, Sapienza University, Rome, Italy.

[13 ] Dystrophic Epidermolysis Bullosa Research Association, Mexico.

Article

Publisher Item ID: 6272905

DOI: 10.1093/clinchem/hvab042

PMC ID: 8167339

PubMed ID: 33969388

SO-VID: 2919bf43-2b6c-435a-a5d0-65ee921ed3ef

History

Keywords: epidermolysis bullosa,mutation detection,heritable skin diseases,familial consanguinity,RNA-seq,whole-transcriptome sequencing

Data availability:

Keywords: epidermolysis bullosa, mutation detection, heritable skin diseases, familial consanguinity, RNA-seq, whole-transcriptome sequencing

Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.

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