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GM27412 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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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 Italian, French
Country of Origin FRANCE
Family Member 1
Family History N
Relation to Proband proband
Species Homo sapiens
Common Name Human
Remarks Clinically affected; biometric at 5th percentile at 28 weeks gestation; vaginal delivery at 39 weeks, 4 days; issues at birth with sucking and feeding; diagnosed at 23 months by geneticist; symptom onset at 2 months of age by a geneticist; minor dysmorphologic features: thin upper lip; short philtrum; cyanosis with eye contact loss episodes; gaze freezes; microcephaly; divergent strabism; hypertonia; siezures (treated by Keppra then Depakine); friendly behavior, but can bite or pull hair when frustrated; global developmental delay; EEG showed non-epileptiform abnormalities (slow activity, few multifocal slow waves); moderate autism spectrum disorder (ASD); developmental milestones: sat at 12 months, crawled at 14 months, cruised at 18 months, walked at 39 months, first words at 14 months; normal MRI; FISH and aCGH testing; microarray oligonucleotide SNP (GRCh37, hg19) result: arr(1-22)x2,(XY)x1; exome sequencing with confirmation by Sanger revealed a de novo, autosomal dominant, heterozygous mutation in CHAMP1 resulting in a premature stop codon: c.1489C>T (p.Arg497*), NM_032436.2, Chr13 (GRCh37):g.115090806C>T; assistive devices include braces and orthotics; treatment and management include: physical therapy, occupational therapy, psychological therapy, speech language therapy, eye therapy, cognitive therapy (Feuerstein method); medications include: esomeprazole (valproic acid from 4 months to 3 years old), macrogol, melatonin, and amitriptyline, forlax, laroxyl; no family history of disease; same subject as GM27353 (fibroblast) and GM27860 (stem cell).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene CHAMP1
Chromosomal Location 13q34
Allelic Variant 1 616327.0002; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
Identified Mutation c.1489C>T (p.Arg497*)

Phenotypic Data

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Remarks Clinically affected; biometric at 5th percentile at 28 weeks gestation; vaginal delivery at 39 weeks, 4 days; issues at birth with sucking and feeding; diagnosed at 23 months by geneticist; symptom onset at 2 months of age by a geneticist; minor dysmorphologic features: thin upper lip; short philtrum; cyanosis with eye contact loss episodes; gaze freezes; microcephaly; divergent strabism; hypertonia; siezures (treated by Keppra then Depakine); friendly behavior, but can bite or pull hair when frustrated; global developmental delay; EEG showed non-epileptiform abnormalities (slow activity, few multifocal slow waves); moderate autism spectrum disorder (ASD); developmental milestones: sat at 12 months, crawled at 14 months, cruised at 18 months, walked at 39 months, first words at 14 months; normal MRI; FISH and aCGH testing; microarray oligonucleotide SNP (GRCh37, hg19) result: arr(1-22)x2,(XY)x1; exome sequencing with confirmation by Sanger revealed a de novo, autosomal dominant, heterozygous mutation in CHAMP1 resulting in a premature stop codon: c.1489C>T (p.Arg497*), NM_032436.2, Chr13 (GRCh37):g.115090806C>T; assistive devices include braces and orthotics; treatment and management include: physical therapy, occupational therapy, psychological therapy, speech language therapy, eye therapy, cognitive therapy (Feuerstein method); medications include: esomeprazole (valproic acid from 4 months to 3 years old), macrogol, melatonin, and amitriptyline, forlax, laroxyl; no family history of disease; same subject as GM27353 (fibroblast) and GM27860 (stem cell).

Publications

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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

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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

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
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
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