Description:
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM (OVARIOLEUKODYSTROPHY, INCLUDED)
EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| 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. |
| |
| 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 |
|
|