Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
- H. Bolz, B. von Brederlow, C. Kubisch
- Medicine, BiologyNature Genetics
- 2001
The data show that different mutations in CDH23 result in USH1D with a variable retinal phenotype, and it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse.
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
- E. Verpy, M. Leibovici, C. Petit
- Biology, MedicineNature Genetics
- 1 September 2000
A gene underlying USH1C is identified, encoding a PDZ-domain–containing protein, harmonin, in a subtracted mouse cDNA library derived from inner ear sensory areas, and it is proposed that Ush1C also underlies the DFNB18 form of isolated deafness.
Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy
- S. Gu, Debra Thompson, A. Gal
- Biology, MedicineNature Genetics
- 1 October 1997
The analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation, two point mutations affecting splicing and two small re-arrangements on a total of nine alleles of five patients with arCSRD.
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
- A. Gal, Yun Li, D. Vollrath
- Medicine, BiologyNature Genetics
- 1 November 2000
These findings are the first conclusive evidence implicating the RPE phagocytosis pathway in human retinal disease.
The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy
- C. Whybra, C. Kampmann, M. Beck
- Medicine, PsychologyClinical Genetics
- 1 April 2004
It is shown that the MSSI score may be a useful, specific measure for objectively assessing the severity of AFD and for monitoring ERT‐related treatment effects.
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
- N. Bech‐Hansen, M. Naylor, R. Weleber
- BiologyNature Genetics
- 1 November 2000
The role of other SLRP proteins suggests that mutant nyctalopin disrupts developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB.
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
- D. Weil, A. El-Amraoui, C. Petit
- BiologyHuman Molecular Genetics
- 1 March 2003
It is suggested that a functional network formed by the USH1B, C, D and G proteins is responsible for the correct cohesion of the hair bundle, and it is shown that SANS associates with harmonin, a PDZ domain-containing protein responsible for USH 1C.
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
- A. Janecke, Debra Thompson, A. Gal
- Medicine, BiologyNature Genetics
- 2004
The studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells, which is in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus caused by mutations in RDH5, encoding another retinal dehydrogenase.
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
- K. Kutsche, H. Yntema, A. Gal
- BiologyNature Genetics
- 1 October 2000
The identification of a new MRX gene, ARHGEF6 (also known as αPIX or Cool-2), encoding a protein with homology to guanine nucleotide exchange factors for Rho GTPases (Rho GEF).
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
- Debra Thompson, Yun Li, A. Gal
- Medicine, BiologyNature Genetics
- 1 June 2001
It is shown that the S175R mutant has no acyltransferase activity in transfected COS-7 cells, highlighting the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extending prospects for retinoid replacement therapy in this group of diseases.
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