Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Shah, Khadim; Mehmood, Sabba; Jan, Abid; Abbe, Izoduwa; Hussain Ali, Raja; Khan, Anwar; Chishti, Muhammad S; Lee, Kwanghyuk; Ahmad, Farooq; Ansar, Muhammad; Shahzad, Shaheen; Nickerson, Deborah A; Bamshad, Michael J; Coucke, Paul J; Santos-Cortez, Regie L P; Spritz, Richard A; Leal, Suzanne M; Ahmad, Wasim

Shah, Khadim; Mehmood, Sabba; Jan, Abid; Abbe, Izoduwa; Hussain Ali, Raja; Khan, Anwar; Chishti, Muhammad S; Lee, Kwanghyuk; Ahmad, Farooq; Ansar, Muhammad; Shahzad, Shaheen; Nickerson, Deborah A; Bamshad, Michael J; Coucke, Paul J; Santos-Cortez, Regie L P; Spritz, Richard A; Leal, Suzanne M; Ahmad, Wasim.

Afiliación

Shah K; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Mehmood S; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, USA.
Jan A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Abbe I; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Hussain Ali R; Department of Biotechnology & Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
Khan A; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Chishti MS; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Lee K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Ahmad F; Department of Biochemistry, Hazara University, Mansehra, Pakistan.
Ansar M; Department of Biochemistry, Hazara University, Mansehra, Pakistan.
Shahzad S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Nickerson DA; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Bamshad MJ; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Santos-Cortez RLP; Department of Biotechnology & Bioinformatics, International Islamic University, Islamabad, Pakistan.
Spritz RA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Leal SM; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Ahmad W; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

Int J Dermatol ; 56(12): 1406-1413, 2017 Dec.

Article en En | MEDLINE | ID: mdl-29130490

ABSTRACT

ABSTRACT

BACKGROUND:

Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study.

METHODS:

Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families.

RESULTS:

Exome sequencing identified seven homozygous sequence variants in different families, including c.27delT in FERMT1; c.836delA in ABHD5; c.2453C>T in ERCC5; c.5314C>T in COL7A1; c.1630C>T in ALOXE3; c.502C>T in PPOX; and c.10G>T in ALDH3A2. Sanger sequencing revealed three homozygous variants c.1718 + 2A>G in FERMT1; c.10459A>T in FLG; and c.92delT in the KRT14 genes as the underlying genetic cause of skin phenotypes.

CONCLUSION:

This study supports the use of exome sequencing as a powerful, efficient tool for identifying genes that underlie rare monogenic skin disorders.

Asunto(s)

Enfermedades Raras/genética; Enfermedades Cutáneas Genéticas/genética; 1-Acilglicerol-3-Fosfato O-Aciltransferasa/genética; Aldehído Oxidorreductasas/genética; Vesícula/genética; Colágeno Tipo VII/genética; Consanguinidad; Análisis Mutacional de ADN; Proteínas de Unión al ADN/genética; Endonucleasas/genética; Epidermólisis Ampollosa/genética; Epidermólisis Ampollosa Distrófica/genética; Epidermólisis Ampollosa Simple/genética; Exoma; Femenino; Proteínas Filagrina; Flavoproteínas/genética; Homocigoto; Humanos; Mutación INDEL; Eritrodermia Ictiosiforme Congénita/genética; Ictiosis Vulgar/genética; Ictiosis Lamelar/genética; Proteínas de Filamentos Intermediarios/genética; Queratina-14/genética; Errores Innatos del Metabolismo Lipídico/genética; Lipooxigenasa/genética; Masculino; Proteínas de la Membrana/genética; Proteínas Mitocondriales/genética; Enfermedades Musculares/genética; Proteínas de Neoplasias/genética; Proteínas Nucleares/genética; Linaje; Enfermedades Periodontales/genética; Fenotipo; Trastornos por Fotosensibilidad/genética; Porfiria Variegata/genética; Protoporfirinógeno-Oxidasa/genética; Síndrome de Sjögren-Larsson/genética; Factores de Transcripción/genética; Xerodermia Pigmentosa/genética

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Enfermedades Raras Tipo de estudio: Prognostic_studies Idioma: En Revista: Int J Dermatol Año: 2017 Tipo del documento: Article País de afiliación: Pakistán

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