GM28478

GM28478 LCL from B-Lymphocyte

Description:

ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT
TUBULIN-SPECIFIC CHAPERONE D; TBCD

Affected:

Yes

Sex:

Male

Age:

9 MO (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

Subject Type

parent/child discordant pair

Country of Origin

ENGLAND

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected. No family history. Symptom onset at birth. Significant central and peripheral hypotonia; brain malformation, seizures and developmental delay. Treatment including physical therapy, occupational therapy and Levetiracetam. Compound hete

Characterizations

Gene

TBCD

Chromosomal Location

17q25.3

Allelic Variant 1

; ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT

Identified Mutation

c.967C>T (p.Arg323Ter)

Gene

TBCD

Chromosomal Location

17q25.3

Allelic Variant 2

; ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT

Identified Mutation

c.3137C>A (p.Thr1046Lys)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

9 MO

Sex

Male

Age at Diagnosis(If not a control)

8 WK

Racial Category

White

Country

ENGLAND

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

TBCD, C.967C>T (P.ARG323TER), NONSENSE

Zygosity:

Compound Heterozygous

Other variants:

TBCD, C.3137C>A (P.THR1046LYS), MISSENSE

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

NEONATAL

Age at Diagnosis:

8-12 WEEKS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Hypotonia
Seizures
Structural brain anomaly

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Treatments and Assistive Devices

Occupational therapy
Physical therapy

Medications

LEVETIRACETAM

Family History

Remarks

External Links

Gene Cards

TBCD

Gene Ontology

GO:0005874 microtubule

GO:0006457 protein folding

GO:0007025 beta-tubulin folding

GO:0051087 chaperone binding

NCBI Gene

Gene ID:6904

NCBI GTR

604649 TUBULIN-SPECIFIC CHAPERONE D; TBCD

617193 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT

OMIM

604649 TUBULIN-SPECIFIC CHAPERONE D; TBCD

617193 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT

Culture Protocols

Split Ratio

1:4

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT TUBULIN-SPECIFIC CHAPERONE D; TBCD

Affected:

Yes

Sex:

Male

Age:

9 MO (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT
TUBULIN-SPECIFIC CHAPERONE D; TBCD