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GM27967 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • 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 Bosnian
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; "See Phenotypic Data Tab"; fibro is GM27963; unaffected mother is GM27961 (fibro) and GM27962 (LCL) and unaffected father is GM27967 (fibro) and GM27980 (LCL).

Characterizations

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Gene CHAMP1
Chromosomal Location 13q34
Allelic Variant 1 616327.1; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
Identified Mutation c.542_543delCT (p.S181Cfs*5)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 2 YR
Sex Female
Age of Onset(If not a control) 9 MO
Age at Diagnosis(If not a control) 2 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:  CLINICAL EXOME SEQUENCING REVEALED A PATHOGENIC HETEROZYGOUS DE NOVO FRAMESHIFT VARIANT IN EXON 3 OF THE CHAMP1 GENE (NM_001164144.1, CHR13:115089859): C.542_543DELCT (P.SER181CYSFSX5); THE NORMAL SEQUENCE WITH THE BASES THAT ARE DELETED IN BRACKETS IS GCCT[DELCT]GTTT
Zygosity:  Heterozygous
Other variants:  COPY NUMBER VARIANT (CNV) ANALYSIS: THERE IS NO CLINICALLY RELEVANT DELETION OR DUPLICATION OF THREE OR MORE EXONS IN THE NEXT GENERATION SEQUENCING DATA FOR THIS PROBAND
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  9 MONTHS
Age at Diagnosis:  2 YEARS - DIAGNOSED AT BY A GENETICIST
In Utero History Information
Birth History Information
Dysmorphic Features
Abnormal hands or feet
Hypertelorism
Additional Information:  UMBILICAL HERNIA, FRONTAL BOSSING, EPICANTHAL FOLDS, UPSLANTED PALPEBRAL FISSURES, WIDE FLAT NASAL BRIDGE, HIGH NARROW PALATE, CROWDED TEETH; SMALL FEET
Neurological Symptoms
Hypotonia
Additional Information:  LOW MUSCLE TONE
Optical and Audiological Symptoms
Additional Information:  FREQUENT EAR AND EYE INFECTIONS; BILATERAL EXOTROPIA
Musculoskeletal Symptoms
Additional Information:  BRACHYDACTYLY, SMALL FEET
Developmental Milestones
Delayed speech and language development
Global developmental delay
Additional Information:  COGNITIVE IMPAIRMENT, ABSENT SPEECH
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
Additional Testing:  OTHER THERAPY: PLAY THERAPY SURGERIES: STRABISMUS SURGERY; EAR TUBES; REMOVAL OF ADENOIDS
Medications
Family History
 EXOME SEQUENCING RESULTS DEMONSTRATE THAT THIS PROBAND'S MOTHER (GM27961, GM27962) AND FATHER (GM27968, GM27980) DO NOT HARBOR THE P.S181CFSXF VARIANT IN THE CHAMP1 GENE, THOUGH GERMLINE MOSAICISM CANNOT BE EXCLUDED; FATHER IS POSITIVE FOR FACTOR V LEIDEN

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 1:5
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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How to Order
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