GM27848

GM27848 Fibroblast from Skin, Leg

Description:

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Male

Age:

6 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample
FOXG1

Biopsy Source

Leg

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Leg

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Jewish

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

See Phenotypic data tab. Unaffected mother is GM27849; Unaffected father is GM27850.

Characterizations

PDL at Freeze

8.72

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

FOXG1

Chromosomal Location

14q12

Allelic Variant 1

p.Gln86Profs*35; RETT SYNDROME, CONGENITAL VARIANT

Identified Mutation

c.256dupC (p.Gln86Profs*35)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

6 MO

Sex

Male

Age at Diagnosis(If not a control)

4 MO

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

NEXT GENERATION SEQUENCING (NGS) WITH A MICROCEPHALY SEQUENCING PANEL REVEALED A PATHOGENIC HETEROZYGOUS AUTOSOMAL DOMINANT MUTATION IN EXON 1 OF THE FOXG1 GENE: C.256DUPC (P.GLN86PROFS*35); CHR:POSITION 14:29236741; ALIGNED TO HG19

Zygosity:

Heterozygous

Other variants:

HETEROZYGOUS AUTOSOMAL RECESSIVE BENIGN VARIANT OF UNCERTAIN SIGNIFICANCE (VOUS) IN THE KNL1 GENE: C.2503_2505DELGGT (P.GLY835DEL); CHR:POSITION 15:40914887

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

BIRTH

Age at Diagnosis:

4 MONTHS

In Utero History Information

Birth History Information

Dysmorphic Features

Microcephaly

Additional Information:

BRAIN ATROPHY

Neurological Symptoms

Hypertonia
Sleep abnormalities

Additional Information:

IRRITABILITY

Optical and Audiological Symptoms

Defective vision

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay

Gastrointestinal Symptoms

Gastrointestinal reflux

Additional Information:

ACID REFLUX

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Treatments and Assistive Devices

Occupational therapy
Physical therapy

Medications

PEPCID

Family History

UNAFFECTED MOTHER IS GM27849; UNAFFECTED FATHER IS GM27850

Remarks

See Phenotypic data tab. Unaffected mother is GM27849; Unaffected father is GM27850.

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

8.72

Passage Frozen

Split Ratio

1:6

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

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:

6 MO (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1