A new genetic variant of the COL4A5 gene was identified in the family of a Chinese boy with atypical X-linked Alport syndrome. The case was reported in the study “Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with…

A new mice model carrying a COL4A5 gene mutation that mimics many of the clinical features of human X-linked Alport syndrome was developed by Japanese researchers. These animals can now be used to better understand the underlying metabolic and biochemical mechanisms involved in the development and progression of…

Mutations in two genes — COL4A5 and LAMA5 — can explain the range in severity of symptoms experienced by a family of patients with hereditary hematuric (blood in the urine) disease. The study, titled “COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?” was published in the journal BMC…

Detailed analysis of inner ear structures in a patient diagnosed with X-linked inherited Alport syndrome reveals particular cochlea features that may contribute to hearing loss among these patients, researchers suggest. The findings of the case report were described in a study published in the journal Laryngoscope Investigative Otolaryngology, titled…

Genetic evaluation of direct family members of Alport syndrome patients is an important step to better understanding the underlying features of the disease, as well as to provide proper counseling to the family, a case report shows. The case of a young boy with Alport syndrome, described in the study,…

Mutations in the COL4A5 gene that lead to the production of shorter versions of the encoded protein are linked to a more severe form of Alport syndrome than other mutations, researchers report in a study. This finding suggests that analysis of the COL4A5-encoded protein can be used to predict renal…

While Alport syndrome and Pierson syndrome are two diseases caused by mutations in genes important for the correct functioning of the kidney’s filtration system, the two diseases have different manifestations. Understanding what these syndromes have in common and what distinguishes them may benefit the design of targeted therapies for each…

Michigan researchers reported the rare case of a 7-year-old boy with a foodpipe abnormality stemming from his Alport syndrome. About 5 percent of Alport patients develop a condition called diffuse leiomyomatosis. Its hallmarks are  an abnormal increase in the number of smooth muscle cells that facilitate certain functions in the…

Chemical compounds known as small chaperone molecules can prevent the protein-structure abnormalities associated with the most common type of Alport syndrome, Australian researchers report. This leads to normal production of the collagen protein that is missing in the disease. Gene mutations cause collagen to misfold. Naturally occurring chaperone molecules prevent misfolding,…

The extent of loss of the COL4A5 protein in the kidneys of Alport syndrome patients is linked to a more severe disease progression, researchers at the Mayo Clinic in Minnesota argue. This feature, however, is not common in patients diagnosed with Alport in adulthood, according to the study,…