Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma.
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ABSTRACT:
SUBMITTER: Hannah-Shmouni F
PROVIDER: S-EPMC6881597 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
Whole-exome sequencing identifies a homozygous pathogenic variant in <i>TAT</i> in a girl with palmoplantar keratoderma.
Hannah-Shmouni Fady F MacNeil Lauren L Lara-Corrales Irene I Pope Elena E Kannu Peter P Sondheimer Neal N
Molecular genetics and metabolism reports 20191122
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. ...[more]
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