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GM05106 LCL from B-Lymphocyte

Description:

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP

Affected:

Yes

Sex:

Female

Age:

12 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
GeT-RM Samples
Class Disorders of the Nervous System
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity ASHKENAZI
Family Member 2
Relation to Proband sister
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; absent axon flare; no cyclic vomiting; absent lingual fungiform papillae; absent deep tendon reflexes; alacrima; kyphosis; renal complications; below 5th percentile for for height; at 5th percentile for weight; nocturnal enuresis; no corneal problems; diminished corneal reflexes; strabismus; labile blood pressure; difficulty chewing; air swallowing; poor oral coordination; chronic rhinorrhea; azotemia; donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; one affected brother died at age 19; affected brother is GM05105; father is GM05107; mother is GM05108; unaffected siblings are GM05109, GM05110, GM05111; affected paternal cousin is GM09790.

Characterizations

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GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
MUTATION VERIFICATION The gene mutation(s) in this sample have been verified by 6 laboratories.
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene IKBKAP
Chromosomal Location 9q31
Allelic Variant 1 603722.0001; FAMILIAL DYSAUTONOMIA
Identified Mutation c.2204+6T>C (IVS20+6T>C); Slaugenhaupt et al. (2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. Haplotype analyses were consistent with a common founder. Anderson et al. (2001) identified the same mutation in Ashkenazi Jewish patients with familial dysautonomia.
 
Gene IKBKAP
Chromosomal Location 9q31
Allelic Variant 2 603722.0001; FAMILIAL DYSAUTONOMIA
Identified Mutation c.2204+6T>C (IVS20+6T>C); Slaugenhaupt et al. (2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. Haplotype analyses were consistent with a common founder. Anderson et al. (2001) identified the same mutation in Ashkenazi Jewish patients with familial dysautonomia.

Phenotypic Data

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Remarks Clinically affected; absent axon flare; no cyclic vomiting; absent lingual fungiform papillae; absent deep tendon reflexes; alacrima; kyphosis; renal complications; below 5th percentile for for height; at 5th percentile for weight; nocturnal enuresis; no corneal problems; diminished corneal reflexes; strabismus; labile blood pressure; difficulty chewing; air swallowing; poor oral coordination; chronic rhinorrhea; azotemia; donor subject is homozygous for the 2507+6T>C mutation in the IKBKAP gene; this donor splice site mutation (IVS20+6T>C) leads to deletion of exon 20 from the mRNA; one affected brother died at age 19; affected brother is GM05105; father is GM05107; mother is GM05108; unaffected siblings are GM05109, GM05110, GM05111; affected paternal cousin is GM09790.

Publications

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Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009
PubMed ID: 19815695
 
Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA, Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia American journal of human genetics72:749-58 2003
PubMed ID: 12577200
 
Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY, Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet68(3):753-758 2001
PubMed ID: 11179021

External Links

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dbSNP dbSNP ID: 10788
Gene Cards ELP1
IKBKAP
Gene Ontology GO:0004871 signal transducer activity
GO:0006461 protein complex assembly
GO:0006468 protein amino acid phosphorylation
GO:0006955 immune response
GO:0008607 phosphorylase kinase regulator activity
NCBI Gene Gene ID:8518
NCBI GTR 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
603722 ELONGATOR COMPLEX PROTEIN 1; ELP1
OMIM 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
603722 ELONGATOR COMPLEX PROTEIN 1; ELP1
Omim Description DYSAUTONOMIA, FAMILIAL; DYS
  FD
  HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY III
  HSAN-III
  RILEY-DAY SYNDROME

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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