TY - JOUR
T1 - A novel COL4A5 splicing variant causing X-linked Alport syndrome
T2 - A case report
AU - Kumagai, Naonori
AU - Matsumoto, Yuji
AU - Kondoh, Tomomi
AU - Ikezumi, Yohei
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-year-old children. He carried a novel variant, NM_033380.3:c. 1032 + 1 G > A, which caused a splicing abnormality in COL4A5. He was diagnosed with X-linked Alport syndrome.
AB - Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detected in routine preventative urinary screening conducted in 3-year-old children. He carried a novel variant, NM_033380.3:c. 1032 + 1 G > A, which caused a splicing abnormality in COL4A5. He was diagnosed with X-linked Alport syndrome.
UR - http://www.scopus.com/inward/record.url?scp=85137718106&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85137718106&partnerID=8YFLogxK
U2 - 10.1038/s41439-022-00209-6
DO - 10.1038/s41439-022-00209-6
M3 - Article
AN - SCOPUS:85137718106
SN - 2054-345X
VL - 9
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 30
ER -