TY - JOUR
T1 - A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing
AU - Yokoi, Takayuki
AU - Enomoto, Yumi
AU - Uehara, Tomoko
AU - Kosaki, Kenjiro
AU - Kurosawa, Kenji
N1 - Funding Information:
This work was supported by Research on Rare and Intractable Diseases from the Ministry of Health, Labour and Welfare, Japan and the Initiative on Rare and Undiagnosed Diseases (IRUD) (18ek0109301) from the Japan Agency for Medical Research and Development (AMED).
Publisher Copyright:
© 2020, The Author(s).
PY - 2020/12/1
Y1 - 2020/12/1
N2 - 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.
AB - 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.
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U2 - 10.1038/s41439-020-0109-z
DO - 10.1038/s41439-020-0109-z
M3 - Article
AN - SCOPUS:85089069712
SN - 2054-345X
VL - 7
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 22
ER -
