GM16771
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
MONOZYGOTIC TWIN PAIRS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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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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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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ASHKENAZI
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Family Member
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2
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Relation to Proband
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twin sister
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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 |
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. |
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| 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. |
| Remarks |
Clinically affected; monozygotic twin born at 37 weeks gestation; birth weight 4 lb 14 oz; hypothermia and poor suck in neonatal period; feeding difficulties; poor oral coordination causing nasopharyngeal reflux; dysphagia and dysarthria; profuse drooling; post prandial vomiting; hypotonia; alacrima; blotchy skin; decreased sweating; decreased lingual fungiform papillae; lack of axon flare; decreased deep tendon reflexes; breath holding; developmental delay; labile blood pressure; multiple pneumonias and recurrent respiratory infections; no scoliosis; weight <5th percentile; wasting of temporal muscles; corneal reflexes are present; temperature sensation almost normal; vibration sense markedly impaired in all four extremities; excessive sympathetic tone; atypical absence seizures; a few punctate left frontoparietal periventricular neuronal heterotopias seen on MRI; 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; DNA testing for Fragile X syndrome was negative; affected monozygotic twin sister is GM16772 and affected brother is GM16770; mother is GM16768; father is GM16769. |
| 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 |
| Supplement |
- |
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