Description:
RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
FOXG1
PIGI Consented Sample |
| 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
|
More than one race
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Indian (50%) / German (25%) / British (25%)
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
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 |
FOXG1 |
| Chromosomal Location |
14q12 |
| Allelic Variant 1 |
; RETT SYNDROME, CONGENITAL VARIANT |
| Identified Mutation |
c.670G>A, p.Gly224Ser |
| Remarks |
Clinically affected; onset of symptoms at 6 months of age; diagnosed by a geneticist at 9 months of age; gross motor delay; infantile /epileptic spasms; management includes: physical therapy, occupational therapy, and speech language therapy; heterozygous c.670G>A (p.Gly224Ser) variant found in FOXG1 gene; heterozygous c.806G>A (p.Ser269Asn) variant of uncertain significance found in CNTNAP2 gene; heterozygous c.493+2 T>C (IVS4+2 T>C) variant of uncertain significance found in FOLR1 gene; heterozygous c.22C>A (p.Pro8Thr) variant of uncertain significance found in GAMT gene; medications include adrenocorticotropic hormone (ACTH); fibroblast is GM27300 and iPSC is GM28577; mother is GM27326. |
|
|