A novel COL4A4 gene variant (C.1856>A): From a focal segmental glomerulosclerosis case to a family with alport syndrome Una nueva variante del gen COL4A4 (C.1856>A): de un caso de gloméruloesclerosis focal y segmentaria a una familia con síndrome de alport
Revista de Nefrologia, Dialisis y Trasplante, cilt.39, sa.2, ss.120-125, 2019 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 39 Sayı: 2
- Basım Tarihi: 2019
- Dergi Adı: Revista de Nefrologia, Dialisis y Trasplante
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.120-125
- Anahtar Kelimeler: Alport syndrome, COL4A4 mutations, Focal segmental glomerulosclerosis
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Alport syndrome, also known as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. It is caused by mutations in genes encoding several members of type IV colagen proteins primarily found in basement membranes. Genetic analyses of affected families have identified four different modes of transmission in patients with Alport syndrome. X-linked form of the syndrome arises from mutations of COL4A5 and COL4A6 on chromosome X, whereas autosomal forms result from genetic defects in either the COL4A3 or COL4A4 genes at chromosome 2q35-37. Digenic forms include patients with coexisting mutations in COL4A3, COL4A4, and COL4A5.