ADTKD MUC1

Disease ID
ADTKD
Gene ID
MUC1
Updated
Feb 5, 2025
v2.2.1

Disease

Name
Autosomal dominant tubulointerstitial kidney disease
Inheritance
Autosomal dominant
Description
An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function1 .
Prevalence
2.5 1,000,000
Disease is affected 1-4/1,000,000 (likely an underestimate due to unremarkable findings); repeat expansion responsibile for 95% of disease2
Age of OnsetYears18  70
Age of Onset Details
Age of onset for end-stage renal disease (the only systemic manifestation) ranges from 183 -702 .

Locus

Details
Disease is caused by the single base expansion of a heptanucleotide (7) cytosine homopolymer tract within one copy of a coding VNTR, resulting in a frameshift mutation. This VNTR has a 60 bp motif which ranges in copy number from 20-125 (~1.5-5 kb) and is GC-rich (>80%). The specific copy of the VNTR motif involved varies by family but is consistent within a family4 . This locus is particularly difficult to genotype5,3 .
Mechanism
GoF
Toxic protein product accumulates in kidneys2
Year
20135
Location in Gene
Exon 2
Gene Strand

Alleles

Ref. Motif
C
Pathogenic (ref.)
C
Pathogenic (gene)
C
BenignPathogenicUnits7  78  8

References

Direct supporting references for info on this page.

1
Ontology Lookup Service (OLS)
mondo:0020726
2
Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1
Anthony J.,Bleyer, Martina,Živná, Kendrah,Kidd, Stanislav,Kmoch
GeneReviews® · 1993-01-01
genereviews:NBK153723
4
Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions
Stephanie E.,Wallace, Lora JH,Bean
GeneReviews® [Internet] · 2022-10-20
genereviews:NBK535148
5
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Andrew,Kirby, Andreas,Gnirke, David B,Jaffe, Veronika,Barešová, Nathalie,Pochet, Brendan,Blumenstiel, Chun,Ye, Daniel,Aird, Christine,Stevens, James T,Robinson, Moran N,Cabili, Irit,Gat-Viks, Edward,Kelliher, Riza,Daza, Matthew,DeFelice, Helena,Hůlková, Jana,Sovová, Petr,Vylet'al, Corinne,Antignac, Mitchell,Guttman, Robert E,Handsaker, Danielle,Perrin, Scott,Steelman, Snaevar,Sigurdsson, Steven J,Scheinman, Carrie,Sougnez, Kristian,Cibulskis, Melissa,Parkin, Todd,Green, Elizabeth,Rossin, Michael C,Zody, Ramnik J,Xavier, Martin R,Pollak, Seth L,Alper, Kerstin,Lindblad-Toh, Stacey,Gabriel, P Suzanne,Hart, Aviv,Regev, Chad,Nusbaum, Stanislav,Kmoch, Anthony J,Bleyer, Eric S,Lander, Mark J,Daly
Nature genetics · 2013-02-10
pmid:23396133

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

3
Jeff,Granhøj, Dorte L,Lildballe, Katja V,Pedersen, Birgitte G,Tougaard, Martin,Sokol, Mads M,Aagaard, Annabeth H,Petersen, Tilde,Kristensen, Malene,Djursby, Henrik,Birn, Maria,Rasmussen
Clinical kidney journal · 2024-11-18
pmid:39781475
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Jessica,Kachmar, Hassan,Saei, Vincent,Morinière, Laurence,Heidet, Bertrand,Knebelmann, Olivier,Gribouval, Manon,Mautret-Godefroy, Stéphane,Burtey, Vincent,Vuiblet, Asma,Alla, Axel,Ibalanky, Olivier,Moranne, Mathilde,Nizon, Benjamin,Savenkoff, Patrick,Nitschké, Corinne,Antignac, Guillaume,Dorval
American journal of kidney diseases : the official journal of the National Kidney Foundation · 2025-01-21
pmid:39848530
Unraveling
Amanda,Helms, Vincent,Chang, Stacy A,Malaker, Jennifer S,Brodbelt
Analytical chemistry · 2024-11-22
pmid:39576755
Erik P,Lillehoj, Yafan,Yu, Avelino C,Verceles, Akihiro,Imamura, Hideharu,Ishida, Kurt H,Piepenbrink, Simeon E,Goldblum
iScience · 2024-08-31
pmid:39314239
Analysis of Molecular Genetic Variants of Lgals4 in Esophageal Cancer: A Preliminary Report.
Surmeet,Kaur, Rajiv,Devgan, Jagdeep,Singh, Namarta,Kalia, Jatinder,Singh, Manpreet,Kaur
Biochemical genetics · 2024-04-12
pmid:38605207
Structural and molecular insight into antibody recognition of dynamic neoepitopes in membrane tethered MUC1 of pancreatic cancer cells and secreted exosomes.
Hajime,Wakui, Yasuhiro,Yokoi, Chieko,Horidome, Toyoyuki,Ose, Min,Yao, Yoshikazu,Tanaka, Hiroshi,Hinou, Shin-Ichiro,Nishimura
RSC chemical biology · 2023-05-24
pmid:37547453
VNtyper enables accurate alignment-free genotyping of
Hassan,Saei, Vincent,Morinière, Laurence,Heidet, Olivier,Gribouval, Said,Lebbah, Frederic,Tores, Manon,Mautret-Godefroy, Bertrand,Knebelmann, Stéphane,Burtey, Vincent,Vuiblet, Corinne,Antignac, Patrick,Nitschké, Guillaume,Dorval
iScience · 2023-06-17
pmid:37456840
Hypoxia controls expression of kidney-pathogenic
Stephanie,Naas, René,Krüger, Karl Xaver,Knaup, Julia,Naas, Steffen,Grampp, Mario,Schiffer, Michael,Wiesener, Johannes,Schödel
Life science alliance · 2023-06-14
pmid:37316299
Detecting tandem repeat variants in coding regions using code-adVNTR.
Jonghun,Park, Mehrdad,Bakhtiari, Bernt,Popp, Michael,Wiesener, Vineet,Bafna
iScience · 2022-07-19
pmid:35982790