A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations

• Main Authors: Mohammad, Mardhiah, Nanra, Ranjit, Colville, Deb, Trevillian, Paul, Wang, Yanyan, Storey, Helen, Flinter, Frances, Savige, Judy
• Format: Article
• Language: English; English
• Published: Springer Berlin Heidelberg 2014
• Subjects: R Medicine (General)
• Online Access: http://irep.iium.edu.my/38537/1/mardhiah_jurnal2.pdf; http://irep.iium.edu.my/38537/4/WOS_Q1.pdf; http://irep.iium.edu.my/38537/; http://link.springer.com/article/10.1007%2Fs00467-013-2682-6
• Institution: Universiti Islam Antarabangsa Malaysia

Background Female subjects with X-linked Alport syndrome have a single COL4A5 mutation, germ cell mosaicism in affected tissues and typically develop renal failure later or less often than male subjects. Women with two mutations are exceedingly rare, and usually have consanguineous parents or unipar...