GM27643

GM27643 LCL from B-Lymphocyte

Description:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

Affected:

Yes

Sex:

Female

Age:

8 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

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

CHAMP1

Chromosomal Location

13q34

Allelic Variant 1

p.Q649X; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Identified Mutation

c.1945C>T (p.Q649*)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

8 YR

Sex

Female

Age at Diagnosis(If not a control)

4 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:

WHOLE EXOME SEQUENCING REVEALED AN AUTOSOMAL DOMINANT MUTATION IN THE CHAMP1 GENE: C.1945C>T (P.Q649X)

Zygosity:

Heterozygous
Notes: OTHER LIKELY PATHOGENIC AUTOSOMAL DOMINANT/RECESSIVE HETEROZYGOUS VARIANT IS IN GJB2 GENE: C.269DUPT (P.V91SFSX11); LIKELY BENIGN AUTOSOMAL RECESSIVE HETEROZYGOUS VARIANT IN TMEM67 GENE: C.2241G>A (P.Q747*) - INHERITED FROM MOTHER

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

BIRTH

Age at Diagnosis:

4 YEARS; DIAGNOSED BY A GENETICIST

In Utero History Information

Birth History Information

Dysmorphic Features

Additional Information:

DYSMORPHIC FEATURES

Neurological Symptoms

Hypotonia

Optical and Audiological Symptoms

Defective vision
Defective hearing

Additional Information:

FOVEAL HYPOPLASIA; BLOND FUNDUS; NYSTAGMUS; MILD LEFT HEARING LOSS

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
Speech therapy
Orthotics
Communication or learning devices

Additional Testing:

SURGERIES: TONSILS/ADENOIDS

Medications

Family History

MOTHER IS NEGATIVE FOR THE MUTATION IN CHAMP1.

External Links

Gene Cards

CHAMP1

NCBI GTR

616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

OMIM

616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Culture Protocols

Split Ratio

1:7

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:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

Affected:

Yes

Sex:

Female

Age:

8 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1