Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of typ
Detection of mutations in the COL4A5 gene in over 90% of male patients with x-linked Alport's syndrome by RT-PCR and direct sequencing
β Scribed by Yuji Inoue; Hisahide Nishio; Taku Shirakawa; Koichi Nakanishi; Hajime Nakamura; Kimiaki Sumino; Kaoru Nishiyama; Kazumoto Iijima; Norishige Yoshikawa
- Book ID
- 117444315
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 53 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0272-6386
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## Communicated by Sesgio Otrdenghi Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene.
We present the first report of prenatal diagnosis of X-linked hyper-IgM syndrome by PCR-mediated site directed mutagenesis (PSM) in a woman known to carry the Q220X mutation in the CD40L gene. Using the simple PSM assay, the Q220X mutation was identified by chorionic villous sampling (CVS) at 11 wee