GM27973

GM27973 Fibroblast from Skin, Skin

Description:

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Male

Age:

8 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample
FOXG1

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Skin

Race

White

Ethnicity

German, Italian, Polish, Irish

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

See Phenotypic Data tab. Same donor as GM28575 (iPSC)

Characterizations

PDL at Freeze

7.5

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

FOXG1

Chromosomal Location

14q12

Allelic Variant 1

p.Gly169Glyfs*23; RETT SYNDROME, CONGENITAL VARIANT

Identified Mutation

c.507del (p.Gly169Glyfs*23)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

8 MO

Sex

Male

Age of Onset(If not a control)

4 MO

Age at Diagnosis(If not a control)

6 MO

Racial Category

White

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

WHOLE EXOME SEQUENCING (WES) REVEALED A DE NOVO PATHOGENIC HETEROZYGOUS AUTOSOMAL DOMINANT MUTATION IN FOXG1 (NM_005249.4): C.507DEL (P.GLY169GLYFS*23)

Zygosity:

Heterozygous

Other variants:

HETEROZYGOUS PATERNALLY-INHERITED AUTOSOMAL RECESSIVE MISSENSE MUTATION IN USH2A (NM_206933.2): C.908G>A (P.ARG303HIS); CLINVAR ID: 264411; HIGHEST ALLELE FREQUENCY IN A GNOMAD POPULATION: 0.0064%, EUROPEAN (NON-FINNISH)

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

4 MONTHS

Age at Diagnosis:

6 MONTHS

In Utero History Information

Birth History Information

Additional Information:

COLIC IN FIRST 5 MONTHS

Dysmorphic Features

Strabismus
Microcephaly

Additional Information:

INTERMITTENT STRABISMUS, SINGLE TRANSVERSE PALMAR CREASE; SMALL FACE

Neurological Symptoms

Sleep abnormalities

Additional Information:

MOVEMENT DISORDER; SLEEP DISTURBANCE; HORIZONTAL NYSTAGMUS

Optical and Audiological Symptoms

Defective vision

Additional Information:

MILD PHOTOPHOBIA

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay
Delayed fine motor skills

Additional Information:

IMPAIRED SMOOTH PURSUIT

Gastrointestinal Symptoms

Constipation

Genitourinary Symptoms

Additional Information:

ABNORMALITY OF THE PENIS (CURVATURE)

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information:

IRRITABILITY

Additional Information

Testing Performed

Cognitive and Behavioral Testing:

EEG SHOWED GENERALIZED SLOWING; HEAD MRI SHOWED THINNING OF CORPUS CALLOSUM AND REDUCED WHITE MATTER

Treatments and Assistive Devices

Occupational therapy
Physical therapy

Medications

Family History

FATHER (NOT IN REPOSITORY) CARRIES THE MUTATION IN USH2A C.908G>A (P.ARG303HIS)

Remarks

See Phenotypic Data tab. Same donor as GM28575 (iPSC)

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

Cumulative PDL at Freeze

7.5

Passage Frozen

Split Ratio

1:5

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Supplement

Pricing

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD

Description:

RETT SYNDROME, CONGENITAL VARIANT FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Male

Age:

8 MO (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1