Description:
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM (OVARIOLEUKODYSTROPHY, INCLUDED)
EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2
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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 |
| 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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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 LINE assay |
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| Gene |
EIF2B2 |
| Chromosomal Location |
14q24 |
| Allelic Variant 1 |
606454.0004; OVARIOLEUKODYSTROPHY |
| Identified Mutation |
SER171PHE; In a patient with ovarioleukodystrophy (603896), Fogli et al. (2003) identified a C-to-T transition at nucleotide 512 of the EIF2B2 gene, resulting in a ser171-to-phe mutation (S171F), in compound heterozygous state with a 6-bp deletion (ATGGCT)/2-bp insertion (TG) at nucleotide 607, resulting in a frameshift at met203 (606454.0005). Secondary amenorrhea began at age 26 years in the patient. |
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| Gene |
EIF2B2 |
| Chromosomal Location |
14q24 |
| Allelic Variant 2 |
606454.0005; OVARIOLEUKODYSTROPHY |
| Identified Mutation |
6-BP DEL/2-BP INS, NT607; See 606454.0004 and Fogli et al. (2003). |
| Remarks |
Clinically affected; patient #944 in Fogli et al, Am J Hum Genet 72:1544-1550, 2003; bilateral cataracts in first week of life were excised with implantation of intraocular lens; walked at age 12 mo; difficulties in school; mild developmental delay; mild thoracic dextroscoliosis; bilateral pes cavus; menarche at age 14 yr; amenorrhea at age 26 yr; atrophied ovaries; spasticity; gait instability at age 25 yr; walker used at age 30 yr; hypophonia with mild dysarthria observed; tongue weakness and hyperreflexia; sphincter disfunction at age 26 yr; optic atrophy; visual loss at age 28 yr;glaucoma with arcuate scotoma of left eye; IQ=65 at age 30 yr; MRI showed generalized volume loss of cortex and white matter; microcephaly; visual motor difficulties; poor executive function; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 512 of the EIF2B2 gene (512C>T), resulting in a ser171-to-phe mutation [Ser171Phe (S171F)] and the second allele has a 6 bp deletion (ATGGCT)/2 bp insertion (TG) at nucleotide 607, resulting in a frameshift at met203 |
| Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O, Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet72(6):1544-50 2003 |
| PubMed ID: 12707859 |
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