GM27912
LCL from B-Lymphocyte
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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Filipino, Chinese, Finnish
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
CHAMP1 |
| Chromosomal Location |
13q34 |
| Allelic Variant 1 |
p.Gln657*; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 |
| Identified Mutation |
c.1969C>T (p.Gln657*) |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
16 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
12 YR |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING (WES) REVEALED A DE NOVO HETEROZYGOUS MUTATION IN THE CHAMP1 GENE: C.1969C>T (P.GLN657*); HG19 (NCBI BUILD 37); RESULTS WERE CONFIRMED BY SANGER SEQUENCING |
| Zygosity: |
Heterozygous |
| Other variants: |
VOUS: UBE3A C.2558A>G (P.X853X), MLL2 C.1938C>G (P.P646P, NO PREDICTED AMINO ACID CHANGE); INHERITED HETEROZYGOUS VARIANTS: CHD7 C.3522+20T>G, C.2012C>T (P.P671L), C.7570C>T (P.L2524L), C.2499-23A>G (ALL PATERNAL); CACNA1C C.5241C>T (P.A1747A, PATERNAL); EHMT1 C.1068C>T (P.T356T) (PATERNAL, RS113595214); FMR1 C.483T>C (P.Y161Y, MATERNAL); MED12 C.397-12A>T (PATERNAL); NHS C.1780G>A (P.V594I, PATERNAL); NSD1 C.5510-10G>A (PATERNAL); PTCHD1 C.1013-24T>C (PATERNAL); NORMAL METHYLATION ON SNPRN GENE FOR PRADER-WILL/ANGELMAN SYNDROME - METHYLATED MATERNAL ALLELE, UNMETHYLATED PATERNAL ALLELE) VIA MS-PCR; NORMAL: MECP2 (MLPA ANALYSIS), PMM2 (PCR), AND THE FOLLOWING SEQUENCED GENES: XNP, ALG6, AND CDKL5/STK9 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
12 YEARS; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
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| Additional Information: |
MOTHER HAD MILD PREGNANCY INDUCED HYPERTENSION (PIH) |
| Birth History Information |
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| Additional Information: |
BORN BY VAGINAL DELIVERY AT 41 WEEKS GESTATION; APGAR SCORES OF 8 AT ONE MINUTE AND 9 AT FIVE MINUTES; WAS FLOPPY, DRIED, STIMULATED, AND PALE AT BIRTH; CYANOTIC IN ROOM AIR; FEATURES OF DOWN'S SYNDROME; WIDESPREAD FIRST TOE AND SIMIAN CREASE ON THE LEFT |
| Dysmorphic Features |
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Microcephaly
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| Additional Information: |
SHORT STATURE |
| Neurological Symptoms |
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Hypotonia
Seizures
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| Additional Information: |
HISTORY OF SEIZURES (NONE CURRENTLY) |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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Delayed speech and language development
Global developmental delay
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| Additional Information: |
SEVERE SPEECH DELAY, INTELLECTUAL DISABILITY |
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
CAPILLARY ELECTROPHORESIS REVEALED NORMAL PATTERNS OF TRANSFERRIN ISOFORMS |
| Uncategorized Testing: |
RANDOM PATTERN OF X-INACTIVATION, RATIO OF 59:41 (RATIOS OF LESS THAN 80:20 ARE RANDOM); AFFY 6.0 MICROARRAY REVEALED LOSS/GAIN OF MULTIPLE REGIONS IN THE DNA |
| Treatments and Assistive Devices |
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Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Communication or learning devices
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| Medications |
| Family History |
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NO FAMILY HISTORY OF THE CHAMP1 MUTATION; PARENTAL STUDIES INDICATE THAT THE ALTERATION IS DE NOVO |
| Remarks |
See Phenotypic Data tab. |
| 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 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
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