Usher syndrome, type IIC; USH2C

Disease ID:941
Name:Usher syndrome, type IIC; USH2C
Associated with:1 target
Synonyms
Usher syndrome | Usher syndrome type 2
Database Links
Disease Ontology: DOID:0050439
OMIM: 605472
Orphanet: ORPHA231178

Targets

ADGRV1
Comments:  Usher syndrome type II is a genetically heterogeneous autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa. Several different mutations have been in single families. Another mutation has been found in a family with familial febrile seizures. Usher syndrome type IIC can also be caused by biallelic digenic mutation in PDZD7 and GPR98.
References:  3,7-9
Mutations:  ADGRV1 is associated with 33 mutation. Click here for details

Ligands

No ligand related data available for Usher syndrome, type IIC; USH2C

References

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1. Besnard T, Vaché C, Baux D, Larrieu L, Abadie C, Blanchet C, Odent S, Blanchet P, Calvas P, Hamel C et al.. (2012) Non-USH2A mutations in USH2 patients. Hum. Mutat., 33 (3): 504-10. [PMID:22147658]

2. Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D et al.. (2011) Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis, 6: 21. [PMID:21569298]

3. Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ. (2009) GPR98 mutations cause Usher syndrome type 2 in males. J. Med. Genet., 46 (4): 277-80. [PMID:19357117]

4. Hilgert N, Kahrizi K, Dieltjens N, Bazazzadegan N, Najmabadi H, Smith RJ, Van Camp G. (2009) A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. J. Med. Genet., 46 (4): 272-6. [PMID:19357116]

5. Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP et al.. (2012) Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J. Med. Genet., 49 (1): 27-36. [PMID:22135276]

6. Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S. (2011) Phenotypes in defined genotypes including siblings with Usher syndrome. Ophthalmic Genet., 32 (2): 65-74. [PMID:21174530]

7. Nakayama J, Fu YH, Clark AM, Nakahara S, Hamano K, Iwasaki N, Matsui A, Arinami T, Ptácek LJ. (2002) A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol, 52: 654-657. [PMID:12402266]

8. Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptácek LJ. (2001) A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron, 31: 537-544. [PMID:11545713]

9. Weston MD, Luijendijk MW, Humphrey KD, Möller C, Kimberling WJ. (2004) Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet, 74: 357-366. [PMID:14740321]