Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma

Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient. In this report, we identified tyrosinemia type II on whole-exome sequencing in...

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Autores principales: Hannah-Shmouni, Fady, MacNeil, Lauren, Lara-Corrales, Irene, Pope, Elena, Kannu, Peter, Sondheimer, Neal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881597/
https://www.ncbi.nlm.nih.gov/pubmed/31799120
http://dx.doi.org/10.1016/j.ymgmr.2019.100534
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author Hannah-Shmouni, Fady
MacNeil, Lauren
Lara-Corrales, Irene
Pope, Elena
Kannu, Peter
Sondheimer, Neal
author_facet Hannah-Shmouni, Fady
MacNeil, Lauren
Lara-Corrales, Irene
Pope, Elena
Kannu, Peter
Sondheimer, Neal
author_sort Hannah-Shmouni, Fady
collection PubMed
description Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient. In this report, we identified tyrosinemia type II on whole-exome sequencing in a 7-year-old Syrian refugee that presented with PPK. Dietary therapy helped improve her overall symptoms.
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spelling pubmed-68815972019-12-03 Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma Hannah-Shmouni, Fady MacNeil, Lauren Lara-Corrales, Irene Pope, Elena Kannu, Peter Sondheimer, Neal Mol Genet Metab Rep Case Report Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient. In this report, we identified tyrosinemia type II on whole-exome sequencing in a 7-year-old Syrian refugee that presented with PPK. Dietary therapy helped improve her overall symptoms. Elsevier 2019-11-22 /pmc/articles/PMC6881597/ /pubmed/31799120 http://dx.doi.org/10.1016/j.ymgmr.2019.100534 Text en © 2019 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Hannah-Shmouni, Fady
MacNeil, Lauren
Lara-Corrales, Irene
Pope, Elena
Kannu, Peter
Sondheimer, Neal
Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
title Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
title_full Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
title_fullStr Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
title_full_unstemmed Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
title_short Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
title_sort whole-exome sequencing identifies a homozygous pathogenic variant in tat in a girl with palmoplantar keratoderma
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881597/
https://www.ncbi.nlm.nih.gov/pubmed/31799120
http://dx.doi.org/10.1016/j.ymgmr.2019.100534
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