Description:
USHER SYNDROME, TYPE IC; USH1C
USH1C GENE; USH1C
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Ophthalmologic Disorders |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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ACADIAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Gene |
USH1C |
| Chromosomal Location |
11p15.1 |
| Allelic Variant 1 |
605242.0004; USHER SYNDROME, TYPE 1C |
| Identified Mutation |
216G>A; In cell lines from an Acadian family with Usher syndrome IC (276904), Bitner-Glindzicz et al. (Nat Genet 26:56-60, 2000) found a homozygous G-to-A change at position 216 of the USH1C cDNA in the affected individual. The substitution did not change an amino acid and examination suggested the creation of a new splice site. Analysis of USH1C lymphoblastoid cDNA from the affected individual showed a shortened RT-PCR product. Sequencing revealed a 39-bp deletion, consistent with the creation of a new splice site within exon 3.
Savas et al. (Hum Genet 110:95-97, 2002) found that 43 of 44 Acadian patients with Usher syndrome were homozygous for both the 216G-A mutation and for the 45-bp VNTR polymorphism, designated 9VNTR(t,t), in intron 5 (605242.0003) of the USH1C gene. The remaining Acadian patient was a compound heterozygote for the 216G-A allele (with the intron 5 VNTR in cis) and 238-239insC (605242.0002), an USH1C mutation found in other populations. The findings demonstrated that 9VNTR(t,t) had complete linkage disequilibrium with the 216G-A mutation in the Acadian population. Among 82 Acadian controls, 1 was heterozygous for 216G-A/9VNTR(t,t). The 238-239insC mutation was not found in Acadian controls.
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| Gene |
USH1C |
| Chromosomal Location |
11p15.1 |
| Allelic Variant 2 |
605242.0004; USHER SYNDROME, TYPE 1C |
| Identified Mutation |
216G>A; In cell lines from an Acadian family with Usher syndrome IC (276904), Bitner-Glindzicz et al. (Nat Genet 26:56-60, 2000) found a homozygous G-to-A change at position 216 of the USH1C cDNA in the affected individual. The substitution did not change an amino acid and examination suggested the creation of a new splice site. Analysis of USH1C lymphoblastoid cDNA from the affected individual showed a shortened RT-PCR product. Sequencing revealed a 39-bp deletion, consistent with the creation of a new splice site within exon 3.
Savas et al. (Hum Genet 110:95-97, 2002) found that 43 of 44 Acadian patients with Usher syndrome were homozygous for both the 216G-A mutation and for the 45-bp VNTR polymorphism, designated 9VNTR(t,t), in intron 5 (605242.0003) of the USH1C gene. The remaining Acadian patient was a compound heterozygote for the 216G-A allele (with the intron 5 VNTR in cis) and 238-239insC (605242.0002), an USH1C mutation found in other populations. The findings demonstrated that 9VNTR(t,t) had complete linkage disequilibrium with the 216G-A mutation in the Acadian population. Among 82 Acadian controls, 1 was heterozygous for 216G-A/9VNTR(t,t). The 238-239insC mutation was not found in Acadian controls.
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| Remarks |
Clinically affected; Acadian; 2 similarly affected sibs; vascular and pigmentary changes typical of RP; visual field defect; retinal abnormality; visual acuity without glasses is 20/25 in right eye and 20/30 in left at distant points; 113dB+ hearing loss for right ear and 116dB+ loss for left; poor manual and oral commun skill; profound bilateral sensorineural hearing loss; absent reflex thresholds for both ears; donor subject is homozygous for a G>A transition at nucleotide 216 in exon 3 of the USH1C gene [216G>A] resulting in a splice-site mutation that causes a 35 bp frame-shift deletion (new splice site is created that eliminates the use of the normal splice site resulting in loss of normal mRNA)
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| Lentz J, Savas S, Ng SS, Athas G, Deininger P, Keats B, The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion Human genetics116:225-7 2004 |
| PubMed ID: 15578223 |
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| DeAngelis MM, Doucet JP, Drury S, Sherry ST, Robichaux MB, Den Z, Pelias MZ, Ditta GM, Keats BJ, Deininger PL, Batzer MA, Assembly of a high-resolution map of the Acadian Usher syndrome region and localization of the nuclear EF-hand acidic gene Biochimica et biophysica acta1407:84-91 1998 |
| PubMed ID: 9639681 |
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| Smith RJ, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJ, Jay M, Bird A, Reardon W, Guest M, et al, Localization of two genes for Usher syndrome type I to chromosome 11. Genomics14:995-1002 1992 |
| PubMed ID: 1478678 |
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| Smith RJ, Pelias MZ, Daiger SP, Keats B, Kimberling W, Hejtmancik JF, Clinical variability and genetic heterogeneity within the Acadian Usher population. Am J Med Genet43:964-9 1992 |
| PubMed ID: 1415347 |
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| Pelias MZ, Lemoine DR, Kossar AL, Ward LJ, Wilson AF, Elston RC, Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana. Cytogenet Cell Genet47:111-2 1988 |
| PubMed ID: 3162715 |
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| Kloepfer HW, Laguaite JK, The hereditary syndrome of congenital deafness and retinitis pigmentosa. (Usher's syndrome). Laryngoscope76:850-62 1966 |
| PubMed ID: 5937908 |
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