Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Ophthalmologic Disorders
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Ethnicity ACADIAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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)
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
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.
 
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.
Remark 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)
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
 
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
 
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
 
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
 
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
 
Kloepfer HW, Laguaite JK, The hereditary syndrome of congenital deafness and retinitis pigmentosa. (Usher's syndrome). Laryngoscope76:850-62 1966
PubMed ID: 5937908
No data is available
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium

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