GM27289

GM27289 LCL from B-Lymphocyte

Description:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25
SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5

Affected:

Yes

Sex:

Male

Age:

4 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

Italian, German, Welsh

Country of Origin

USA

Family Member

Family History

Relation to Proband

brother

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

SLC13A5

Chromosomal Location

17p13.1

Allelic Variant 1

608305..0001; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA; EIEE25

Identified Mutation

c.655G>A (p.G219R)

Gene

SLC13A5

Chromosomal Location

17p13.1

Allelic Variant 1

p.LEU492PRO (p.L492P); EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA; EIEE25

Identified Mutation

c.1475T>C (p.L492P)

Phenotypic Data

Demographic Data

Relation to Proband

brother

Age at Sampling

4 YR

Sex

Male

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:

WHOLE EXOME SEQUENCING REVEALED TWO VARIANTS IN THE SLC13A5 GENE IN TRANS CONFIGURATION (COMPOUND HETEROZYGOUS): SLC13A5 C.655G>A (P.G219R) EXON 5; SLC13A5 C.1475T>C (P.L492P) EXON 11

Zygosity:

Compound Heterozygous
Notes: VARIANT C.655G>A (P.G219R) KNOWN TO BE PATHOGENIC; VARIANT C.1475T>C (P.L492P) IS LIKELY PATHOGENIC

Other variants:

WDR81, C.3532G>A (P.A1178T), EXON 1, RS151330612, HETEROZYGOUS; MOCS1, C.*679T>C, 3'UTR, NOVEL VARIANT, HETEROZYGOUS

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

BIRTH

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Ataxia
Hypotonia
Seizures

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Scoliosis

Developmental Milestones

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Intellectual Disability:

Severe

Additional Information

Testing Performed

Treatments and Assistive Devices

Medications

Family History

PATIENT'S SIBLING (GM27288) ALSO COMPOUND HETEROZYGOUS FOR THESE TWO VARIANTS; MOTHER (GM27290) IS APPARENTLY HEALTHY AND HETEROZYGOUS FOR THE C.1475T>C (P.L492P) VARIANT; FATHER (GM27299) IS APPARENTLY HEALTHY AND HETEROZYGOUS FOR THE C.655G>A (P.G219R) PATHOGENIC VARIANT.