Description:
RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
FOXG1
PIGI Consented Sample |
| 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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More than one race
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Indian (50%) / German (25%) / British (25%)
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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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 |
| |
| 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. |
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