A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

Takayuki Yokoi, Yumi Enomoto, Tomoko Uehara, Kenjiro Kosaki, Kenji Kurosawa

Research output: Contribution to journalArticle

Abstract

We report a Japanese girl with mild xeroderma pigmentosum group D neurological disease. She had short stature, cataracts, intellectual disability, and mild skin symptoms. However, she was not clinically diagnosed. Using whole-exome sequencing, we identified compound heterozygous pathogenic variants in ERCC2. In the future, the patient may develop skin cancer and her neurological symptoms may progress. Early genetic testing is necessary to clarify the cause of symptoms in undiagnosed patients.

Original languageEnglish
Article number22
JournalHuman Genome Variation
Volume7
Issue number1
DOIs
Publication statusPublished - 2020 Dec 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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