GM27434

GM27434 LCL from B-Lymphocyte

Description:

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
FOXG1

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Race

White

Hispanic Ethnicity

Not Hispanic/Latino

Ethnicity

Dutch

Country of Origin

NETHERLANDS

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. Mother is GM27435 (LCL) and father is GM27436 (LCL).

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

FOXG1

Chromosomal Location

14q12

Allelic Variant 1

p.Leu257Arg; RETT SYNDROME, CONGENITAL VARIANT

Identified Mutation

c.770T>G (p.Leu257Arg)

Demographic Data

Relation to Proband

proband

Age at Sampling

3 YR

Sex

Male

Age of Onset(If not a control)

9 MO

Age at Diagnosis(If not a control)

3 YR

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

NETHERLANDS

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

WHOLE EXOME SEQUENCING REVEALED A DE NOVO HETEROZYGOUS MISSENSE MUTATION IN THE FOXG1 GENE (NM_005249.4): C.770T>G (P.LEU257ARG)

Zygosity:

Heterozygous

Other variants:

OTHER VARIANTS OF UNKNOWN CLINICAL SIGNIFICANCE INCLUDE DE NOVO HETEROZYGOUS DNASE1 (NM_005223.3): C.493G>C (P.GLU165GLN, AND X-LINKED HEMIZYGOUS (HETEROZYGOUS IN MOTHER) PCDH11X (NM_032968.4) C.3331G>A (P.ASP1111ASN). A PATHOGENIC MUTATION IN CFTR (NM_000492.3): C.1521_1523DEL (P.PHE508DEL).

Age of Symptom Onset and Age at Diagnosis

Age at Diagnosis:

3 YEARS, 4 MONTHS; DIAGNOSED BY A GENETICIST

In Utero History Information

Birth History Information

Dysmorphic Features

Additional Information:

NO EVIDENT DYSMORPHIC FEATURES; NORMAL HEAD CIRCUMFERENCE

Neurological Symptoms

Hypotonia
Sleep abnormalities

Additional Information:

NO SEIZURES

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay

Sitting Without Assistance:

Achieved and maintained

Walking Without Assistance:

Achieved and maintained

Additional Information:

PERFORMING AT AGE 1-1.5 YEARS; NON-VERBAL; WALKS INDEPENDENTLY WHEN PLACED STANDING; CAN'T TRANSITION FROM SITTING TO STANDING

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Uncategorized Testing:

SNP ARRAY OF TOTAL GENOMIC DNA FROM BLOOD: NORMAL MALE PROFILE ARR(HG19) (1-22)X2, (X,Y)X1; ANALYSIS OF ROH (REGIONS OF HOMOZYGOUS SNPS WITH A NORMAL COPY NUMBER) SHOWED A NORMAL PATTERN, THERE ARE NO ROH >10MB

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices

Medications

Family History

MOTHER ALSO CARRIES A HETEROZYGOUS MUTATION IN PCDH11X: C.3331G>A (P.ASP1111ASN); FATHER ALSO CARRIES THE MUTATION IN CFTR GENE: C.1521_1523DEL (P.PHE508DEL)

Remark

See Phenotypic Data tab. Mother is GM27435 (LCL) and father is GM27436 (LCL).

No data is available

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