GM27411

GM27411 LCL from B-Lymphocyte

Description:

RETT SYNDROME, CONGENITAL VARIANT
FORKHEAD BOX G1; FOXG1

Affected:

Yes

Sex:

Female

Age:

15 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
FOXG1
PIGI Consented Sample

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Country of Origin

CANADA

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

See Phenotypic Data tab.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

FOXG1

Chromosomal Location

14q12

Allelic Variant 1

164874.0007; RETT SYNDROME, CONGENITAL VARIANT

Identified Mutation

c.460dupG (p.Glu154Glyfs*301); In 2 unrelated patients with the congenital variant of Rett syndrome (613454), Kortum et al. (2011) identified a heterozygous de novo 1-bp duplication (460dupG), resulting in a duplication of guanine after 7 subsequent guanine nucleotides in the FOXG1 gene. The recurrence of this mutation suggested that this guanine stretch is prone to replication errors, thus representing a mutation hotspot.

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

15 YR

Sex

Female

Age of Onset(If not a control)

5 MO

Age at Diagnosis(If not a control)

11 YR

Racial Category

White

Country

CANADA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

SEQUENCING WITH A MICROCEPHALY SEQUENCING PANEL REVEALED A PATHOGENIC DOMINANT MUTATION IN FOXG1 GENE: C.490DUP (P.GLU154GLYFS*301); CONFIRMED BY SANGER SEQUENCING

Zygosity:

Heterozygous

Other variants:

BENIGN VARIANT OF UNKNOWN SIGNIFICANCE (VOUS) IN THE FOXG1 GENE: C.376G>A (P.GLY126SER)

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

5 MONTHS

Age at Diagnosis:

11 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Microcephaly

Neurological Symptoms

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Additional Information:

SURGERY: HIP DYSPLASIA

Developmental Milestones

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Neurological Testing:

IMAGING, EEG

Respiratory and Cardiovascular Testing:

EKG

Uncategorized Testing:

BIOPSY

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Communication or learning devices

Additional Testing:

OTHER ASSISTIVE DEVICES - GTUBE, CPAP

Medications

BACLOFEN, LANSOPRAZOLE, DOMPERIDONE

Family History

Remarks

See Phenotypic Data tab.