GM27638

GM27638 LCL from B-Lymphocyte

Description:

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

Affected:

Yes

Sex:

Female

Age:

3 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

Black/African American

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

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.Tyr709Ter; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Identified Mutation

c.2127T>G (p.Tyr709*)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

3 YR

Sex

Female

Age of Onset(If not a control)

4 MO

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

Black/African American

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

HETEROZYGOUS AUTOSOMAL DOMINANT MUTATION IN THE CHAMP1 GENE: C.2127T>G (P.TYR709TER)

Zygosity:

Heterozygous
Notes: DE NOVO MUTATION (VARIANT NOT DETECTED IN EITHER PARENT)

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

4 MONTHS

Age at Diagnosis:

DIAGNOSED BY GENETICIST AND PRIMARY CARE PHYSICIAN

In Utero History Information

Birth History Information

Dysmorphic Features

Microcephaly

Additional Information:

DYSMORPHIC FACIAL FEATURES

Neurological Symptoms

Additional Information:

ABNORMAL SHAKING AND MOVEMENT

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Global developmental delay

Additional Information:

NON-VERBAL - LIMITED WORDS; DEVELOPMENT IS SIMILAR TO THAT OF AN 18 MONTH OLD; BALANCE ISSUES; FEEDING PROBLEMS - FOOD NEEDS TO BE DICED

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Neurological Testing:

EEG, MRI

Respiratory and Cardiovascular Testing:

EKG

Uncategorized Testing:

BIOPSY

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy
Communication or learning devices

Additional Testing:

PECS BOOK

Medications

Family History

NONE; MUTATION NOT DETECTED IN EITHER PARENT (LYMPHS: GM27639, GM27640)

Remarks

See Phenotypic Data tab.

Publications

Yoshizaki Y, Ouchi Y, Kurniawan D, Yumoto E, Yoneyama Y, Rizqullah FR, Sato H, Sarholz MH, Natsume T, Kanemaki MT, Ikeda M, Ui A, Iemura K, Tanaka K, CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency Scientific reports14:31904 2024

PubMed ID: 39738383

External Links

Gene Cards

CHAMP1

NCBI GTR

616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

616579 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA IMPAIRED LANGUAGE AND DYSMORPHIC FEATURES; NEDHILD

OMIM

616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

616579 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA IMPAIRED LANGUAGE AND DYSMORPHIC FEATURES; NEDHILD

Culture Protocols

Split Ratio

1:6

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

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD

Description:

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

Publications

External Links

Culture Protocols

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES; NEDHILD
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1