GM27659

GM27659 LCL from B-Lymphocyte

Description:

GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1

Affected:

Yes

Sex:

Female

Age:

25 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
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

Ethnicity

Not Hispanic/Latino

Ethnicity

English, Irish, Scottish

Country of Origin

USA

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.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

SLC2A1

Chromosomal Location

1p34.2

Allelic Variant 1

p.W65*; GLUT1 DEFICIENCY SYNDROME 1

Identified Mutation

c.195G>A (p.W65*); This p.W65* variant has been previously reported in a group of individuals with autosomal dominant GLUT1 Deficiency Syndrome 1, infantile onse, severe (OMIM #606777) described to have intellectual deficiency, epilepsy, and movement disorders (Hully M, et al. Euro J Med Genet 2015;58:443-454).

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

25 YR

Sex

Female

Age of Onset(If not a control)

6 MO

Age at Diagnosis(If not a control)

24 YR

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:

SLC2A1, C.195G>A (P.W65*)

Zygosity:

Heterozygous
Notes: TARGETED NEXT-GENERATION SEQUENCING REVEALED THAT THIS INDIVIDUAL IS HETEROZYGOUS FOR A LIKELY PATHOGENIC VARIANT IN THE SLC2A1 GENE

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

6 MONTHS

Age at Diagnosis:

24 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Ataxia
Seizures

Additional Information:

SEIZURES AT 6 MONTHS OLD; FOCAL EPILEPSY; ASYMMETRIC VOLUME LOSS AND OBSCURATION OF THE NORMAL INTERNAL ARCHITECTURE OF THE RIGHT HIPPOCAMPUS, PARTICULARLY IN ITS MID AND POSTERIOR PORTIONS; MESIAL TEMPORAL SCLEROSIS ON THE RIGHT

Optical and Audiological Symptoms

Nystagmus

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay
Delayed fine motor skills

Additional Information:

SPASTICITY; EXTREMELY WEAK FINE MOTOR SKILLS

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Attention deficit hyperactivity disorder

Intellectual Disability:

Mild

Additional Information

Testing Performed

Neurological Testing:

ELECTROENCEPHALOGRAPHY

Treatments and Assistive Devices

Wheelchair or ambulation devices

Additional Testing:

UNDERGONE TENDON LENGTHENING SURGERY

Medications

LEVETIRACETAM (KEPPRA) - CURRENTLY WEANING OFF, STARTED AT 1500MG DAILY; IBUPROFEN; MEDROXYPROGESTERONE; MELATONIN; MIRABEGRON; OMEGA-3 FATTY ACIDS-VITAMIN E; PYRIDOXINE (VITAMIN B6)

Family History

NO FAMILY HISTORY, NEITHER PARENT CARRIES THE SLC2A1 VARIANT DETECTED

Remarks

See Phenotypic Data tab.