GM28300

GM28300 LCL from B-Lymphocyte

Description:

RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2

Affected:

Yes

Sex:

Female

Age:

11 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

Polish-Moroccan Jew

Country of Origin

ISRAEL

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; fibro is GM28299; unaffected mother is GM28301 (lymph); unaffected sister is GM28302 (lymph).

Characterizations

Gene

MECP2

Chromosomal Location

Xq28

Allelic Variant 1

300005.0038; RETT SYNDROME

Identified Mutation

c.710delG; 1-bp deletion (710delG) in exon 4 of the MECP2 gene, resulting in a frameshift and premature termination after amino acid 246.

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

11 YR

Sex

Female

Age of Onset(If not a control)

6 MO

Age at Diagnosis(If not a control)

2 YR

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

ISRAEL

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

DNA SEQUENCING OF THE PERIPHERAL BLOOD REVEALED A HETEROZYGOUS MUTATION IN THE MECP2 GENE: C.710DELG

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

6 MONTHS

Age at Diagnosis:

2 YEARS; DIAGNOSED BY THE PEDIATRICIAN

In Utero History Information

Birth History Information

Dysmorphic Features

Additional Information:

HEAD CIRCUMFERENCE HAS NOT DECELERATED

Neurological Symptoms

Additional Information:

NO USE OF HANDS; CONSTANT REPETITIVE HAND MOTIONS; ALTHOUGH CONTROLLED WITH MEDICATION, HAS OCCASIONAL SEIZURES; OCCASIONAL TREMORS; TYPICAL SLEEPING PATTERN FOR AGE GROUP

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Additional Information:

SOME DEGREE OF RIGIDITY/SPASTICITY; NO SCOLIOSIS OR KYPHOSIS; FEET SIZE IS PROPORTIONATE WITH BODY SIZE

Developmental Milestones

Additional Information:

NON-VERBAL; WALKS WITH ASSISTANCE; NORMAL HEIGHT (127CM) AND WEIGHT (22KG) FOR AGE

Gastrointestinal Symptoms

Constipation
Eating difficulties

Additional Information:

EATS SLOWLY; DOES NOT HAVE A FEEDING TUBE; NO REFLUX ISSUES; NO ISSUES WITH BLOATING

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Breathing irregularities

Additional Information:

OCCASIONAL BREATHING PROBLEMS; NO ISSUES WITH CIRCULATION

Cognitive and Behavioral Symptoms

Additional Information:

TEETH GRINDING OFTEN/CONSTANT; DOES NOT EXHIBIT SELF-INJURIOUS BEHAVIOR; IRRITABILITY/AGITATION IS SAME AS EXPECTED IN PEERS

Additional Information

Uncategorized Symptoms:

NEVER OR RARELY SICK

Testing Performed

Respiratory and Cardiovascular Testing:

ABNORMAL EEG: MINOR ABNORMALITIES - SLOW WAVES - CENTRO TEMPORAL

Treatments and Assistive Devices

Physical therapy
Speech therapy
Communication or learning devices

Additional Testing:

ADDITIONAL THERAPY: HYDROTHERAPY

Medications

DEPELEPT, TOPAMAX, TRILEPTIN

Family History

NO FAMILY HISTORY OF DISEASE; UNAFFECTED MOTHER IS GM28301 (LYMPH); UNAFFECTED SISTER IS GM28302 (LYMPH)

Remarks

See "Phenotypic Data" tab; fibro is GM28299; unaffected mother is GM28301 (lymph); unaffected sister is GM28302 (lymph).

External Links

Gene Cards

MECP2

Gene Ontology

GO:0000122 negative regulation of transcription from Pol II promoter

GO:0003677 DNA binding

GO:0003714 transcription corepressor activity

GO:0005634 nucleus

GO:0006355 regulation of transcription, DNA-dependent

NCBI Gene

Gene ID:4204

NCBI GTR

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

312750 RETT SYNDROME; RTT

OMIM

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

312750 RETT SYNDROME; RTT

Omim Description

AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE

RETT SYNDROME; RTT

RTS

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:

RETT SYNDROME; RTT METHYL-CPG-BINDING PROTEIN 2; MECP2

Affected:

Yes

Sex:

Female

Age:

11 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2