GM27871

GM27871 LCL from B-Lymphocyte

Description:

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Male

Age:

1 YR (At Sampling)

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

Family History

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

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:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

RETT SYNDROME, CONGENITAL VARIANT FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Male

Age:

1 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1