GM27854

GM27854 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

10 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

FRANCE

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.THR221ASNfs*3; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

Identified Mutation

c.661dup (p.THR221ASNfs*3)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

10 YR

Sex

Male

Age of Onset(If not a control)

7 MO

Age at Diagnosis(If not a control)

9 YR

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

FRANCE

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

HIGH THROUGHPUT EXOME SEQUENCING REVEALED A DE NOVO AUTOSOMAL DOMINANT HETEROZYGOUS DUPLICATION OF A FRAMESHIFT BASE PAIR IN EXON 3 OF THE CHAMP1 GENE (NM_032436): C.661DUP (P. THR221ASNFS'*3)

Zygosity:

Heterozygous
Notes: NO REPORTABLE VARIANTS IN ADA2 WHICH IS ASSOCIATED WITH VACULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY AND HEMATOLOGIC DEFECTS SYNDROME

Other variants:

A DE NOVO AUTOSOMAL DOMINANT HETEROZYGOUS VARIANT IN EXON 34 OF THE FBN1 GENE (NM_000138): C.4214T>A, (P.LEU1405HIS). SEGREGATION ANALYSIS RESULTS SHOWED THAT THE VARIANTS WERE DE NOVO

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

7 MONTHS

Age at Diagnosis:

9 YEARS; DIAGNOSED BY A GENETICIST

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Delayed speech and language development
Global developmental delay

Additional Information:

SEVERE SPEECH DELAY

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Learning disability

Additional Information

Testing Performed

Treatments and Assistive Devices

Speech therapy
Communication or learning devices

Medications

Family History

NONE; MUTATIONS NOT DETECTED IN EITHER PARENT

Remarks

See Phenotypic Data tab.

Publications

Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom TM, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D, De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment American journal of human genetics97:493-500 2015

PubMed ID: 26340335

Isidor B, Küry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, Davies SJ, Lebel RR, Henderson A, Schaaf CP, Streff HE, Yang Y, Jain V, Chida N, Latypova X, Le Caignec C, Cogné B, Mercier S, Vincent M, Colin E, Bonneau D, Denommé AS, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Piton A, Dina C, Donnart A, Lindenbaum P, Charpentier E, Redon R, Iemura K, Ikeda M, Tanaka K, Bézieau S, De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability Human mutation37:354-8 2015

PubMed ID: 26751395

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

1:5

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

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

Serum

20% 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:

Male

Age:

10 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

Publications

External Links

Culture Protocols

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