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

研究成果: Article査読

抄録

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.

本文言語English
論文番号22
ジャーナルHuman Genome Variation
7
1
DOI
出版ステータスPublished - 2020 12 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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