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GM27871
LCL
from
B-Lymphocyte
Description:
RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1
Affected:
Yes
Sex:
Male
Age:
1
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
FOXG1
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
White
Ethnicity
Hispanic/Latino
Ethnicity
Spanish
Country of Origin
CHILE
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
See Phenotypic Data tab. Unaffected father GM27698 and Unaffected mother GM27699; fibro is GM27600.
Characterizations
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin Confirmed by LINE assay
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
1 YR
Sex
Male
Age of Onset(If not a control)
9 MO
Hispanic or Latino/Not Hispanic or Latino
Hispanic/Latino
Racial Category
White
Country
CHILE
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
WHOLE EXOME SEQUENCING (WES) REVEALED AN AUTOSOMAL DOMINANT DE NOVO MISSENSE MUTATION IN EXON 2 OF THE FOXG1 GENE: C.569T>A (P.ILE190ASN) NOT DETECTED IN EITHER PARENT. NO MITOCHONDRIAL VARIANTS OF MEDICAL RELEVANCE WERE IDENTIFIED AND NO LARGE DELETIONS WERE IDENTIFIED IN THE MITCHONDRIAL GENOME.
Zygosity:
Heterozygous
Notes:
CHR14:29237054, REF GRCH37; POLYPHEN-2: PROBABLY DAMAGING; SIFT: DELETERIOUS
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
8 MONTHS
Age at Diagnosis:
DIAGNOSED BY A NEUROLOGIST AT 1 YEAR OF AGE
In Utero History Information
Birth History Information
Dysmorphic Features
Neurological Symptoms
Corpus callosum abnormalities
Chorea
Additional Information:
EARLY DEVELOPMENT OF CHOREA/ATHETOSIS WITH OROLINGUAL DYSKINESIA
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Developmental Milestones
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Additional Information
Uncategorized Symptoms:
SEVERE DIFFICULTIES IN NOURISHMENT
Testing Performed
Neurological Testing:
BRAIN MRI SHOWED CORPUS CALLOSUM ABNORMALITIES; NORMAL EEG
Treatments and Assistive Devices
Additional Testing:
TREATMENT BY A KINESIOLOGIST
Medications
Family History
THE VARIANT WAS NOT DETECTED IN EITHER PARENT.
Remarks
See Phenotypic Data tab. Unaffected father GM27698 and Unaffected mother GM27699; fibro is GM27600.
External Links
Gene Cards
FOXG1
Gene Ontology
GO:0003700 transcription factor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
GO:0007420 brain development
GO:0009653 morphogenesis
NCBI Gene
Gene ID:2290
NCBI GTR
164874 FORKHEAD BOX G1; FOXG1
613454 RETT SYNDROME, CONGENITAL VARIANT
OMIM
164874 FORKHEAD BOX G1; FOXG1
613454 RETT SYNDROME, CONGENITAL VARIANT
Culture Protocols
Split Ratio
1:4
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
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
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
Add to Cart
How to Order
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MTA / Assurance Form
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