This really sounds like it's describing Alport syndrome, but Alport syndrome is X-linked DOMINANT! What is going on here? Is this a mistake? How to explain calling it X-linked RECESSIVE?
Alport Syndrome
Mutation in type IV collagen -> thinning and splitting of glomerular basement membrane. Most commonly X-linked dominant. Eye problems (eg, retinopathy, anterior lenticonus), glomerulonephritis, sensorineural deafness; โcanโt see, canโt pee, canโt hear a bee.โ
EMโโbasket-weaveโ appearance due to irregular thickening of GBM
cneal46lolll apparently 15% of cases are inherited x-recessive. I just ignored the inheritance part and answered based on the functions of all those proteins +1
doublethinkerAccording to the rare diseases government website, it's OFTEN X-linked recessive: "Alport syndrome can be inherited in three different ways. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked recessive pattern."
Question def threw me off tho, because I was continuously thinking it's X-linked dominant...
https://rarediseases.info.nih.gov/diseases/5785/alport-syndrome+1
epiglotittiesAlso, FA 2020 p.581 says "most commonly X-linked dominant" which implies that it has other modes of inheritance+
submitted by โazibird(279)
This really sounds like it's describing Alport syndrome, but Alport syndrome is X-linked DOMINANT! What is going on here? Is this a mistake? How to explain calling it X-linked RECESSIVE?
Alport Syndrome Mutation in type IV collagen -> thinning and splitting of glomerular basement membrane. Most commonly X-linked dominant. Eye problems (eg, retinopathy, anterior lenticonus), glomerulonephritis, sensorineural deafness; โcanโt see, canโt pee, canโt hear a bee.โ EMโโbasket-weaveโ appearance due to irregular thickening of GBM