Autosomal dominant Alport syndrome linked to the type IV collage  3 and  4 genes (COL4A3 and COL4A4)

Jefferson, J. Ashley; Lemmink, Henny H.; Hughes, Alison; Hill, Claire; Smeets, Hubert J.M.; Doherty, C C; Maxwell, Alexander P.

doi:10.1093/ndt/12.8.1595

Cited by 127 publications

(71 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…First, the possibility that TBMN may not be benign in terms of ultimate prognosis has been considered before (13,14,18,30,25), and ESRD similar to that seen in AS was reported in adults with heterozygote COL4A3/A4 mutations (occasionally also referred to as "autosomal dominant Alport syndrome") (15,34 -37). It should be noted that it was suggested that the molecular type of COL4A3/A4 mutations and additional modifier genes are likely to influence the severity of the renal phenotype eventually (35,36,37). Second, hypertension in adults with TBMN was reported previously and is likely to worsen the general prognosis of affected patients (13,25).…”

Section: Discussionmentioning

confidence: 87%

Chronic Renal Failure and Shortened Lifespan in COL4A3+/− Mice

Beirowski¹,

Weber²,

Groß³

2006

Journal of the American Society of Nephrology

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 87%

Chronic Renal Failure and Shortened Lifespan in COL4A3+/− Mice

Beirowski¹,

Weber²,

Groß³

2006

Journal of the American Society of Nephrology

View full text Add to dashboard Cite

“…A recent study using next generation sequencing (NGS) analysis revealed high proportions of mutations in COL4A3 and COL4A4 and a higher incidence of ADAS than previously reported (6). However, studies of ADAS are limited, and the clinical phenotype and genetic and pathologic backgrounds remain unclear (7)(8)(9)(10)(11)(12). In this study, we provide the first clarification of the genetic, clinical, and pathologic backgrounds of ADAS in a relatively large number of patients.…”

Section: Introductionmentioning

confidence: 76%

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

Kamiyoshi

Nozu

et al. 2016

CJASN

102

View full text Add to dashboard Cite

Background and objectives Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for ,5% of patients. However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome remain unclear.Design, setting, participants, & measurements We conducted a retrospective analysis of 25 patients with genetically proven autosomal dominant Alport syndrome and their family members (a total of 72 patients) from 16 unrelated families. Patients with suspected Alport syndrome after pathologic examination who were referred from anywhere in Japan for genetic analysis from 2006 to 2015 were included in this study. Clinical, laboratory, and pathologic data were collected from medical records at the point of registration for genetic diagnosis. Genetic analysis was performed by targeted resequencing of 27 podocyte-related genes, including Alport-related collagen genes, to make a diagnosis of autosomal dominant Alport syndrome and identify modifier genes or double mutations. Clinical data were obtained from medical records.Results The median renal survival time was 70 years, and the median age at first detection of proteinuria was 17 years old. There was one patient with hearing loss and one patient with ocular lesion. Among 16 patients who underwent kidney biopsy, three showed FSGS, and seven showed thinning without lamellation of the glomerular basement membrane. Five of 13 detected mutations were reported to be causative mutations for autosomal recessive Alport syndrome in previous studies. Two families possessed double mutations in both collagen 4A3 and collagen 4A4, but no modifier genes were detected among the other podocyte-related genes.Conclusions The renal phenotype of autosomal dominant Alport syndrome was much milder than that of autosomal recessive Alport syndrome or X-linked Alport syndrome in men. It may, thus, be difficult to make an accurate diagnosis of autosomal dominant Alport syndrome on the basis of clinical or pathologic findings. No modifier genes were identified among the known podocyte-related genes.

show abstract

“…About 15% of the cases show autosomal-recessive inheritance and are caused by homozygous or compound heterozygous mutations in COL4A3 (MIM 120070) or COL4A4 (MIM 120131) Mochizuki et al, 1994). Autosomal-dominant inheritance is rare, and is usually caused by heterozygous COL4A3 or COL4A4 mutations ( Jefferson et al, 1997). The COL4A3 and COL4A4 genes code for type IV collagen a3-and a4-chains, respectively.…”

Section: A Lport Syndrome (As) (Mendelian Inheritance In Manmentioning

confidence: 99%

A NovelCOL4A3Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

Uzak

Tokgöz

Dündar

et al. 2013

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

Autosomal dominant Alport syndrome linked to the type IV collage 3 and 4 genes (COL4A3 and COL4A4)

Abstract: Mutations in the COL4A3 and COL4A4 genes can cause a spectrum of glomerular basement membrane disease ranging from autosomal recessive Alport syndrome to autosomal dominant Alport syndrome and familial benign haematuria.

Cited by 127 publications

References 4 publications

Chronic Renal Failure and Shortened Lifespan in COL4A3+/− Mice

Chronic Renal Failure and Shortened Lifespan in COL4A3+/− Mice

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

A NovelCOL4A3Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

Contact Info

Product

Resources

About