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GM28294 LCL from B-Lymphocyte

Description:

CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8

Affected:

Yes

Sex:

Male

Age:

4 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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Subject Type parent/child discordant pair
Country of Origin GERMANY
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; making good progress with current therapy. Fibro is GM28292; Unaffected mother is GM28293 and GM28295.

Characterizations

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Gene SLC6A8
Chromosomal Location Xq28
Allelic Variant 1 ; CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
Identified Mutation c.1260_1281del (p.Gly421AlafsTer35)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 4 YR
Sex Male
Age of Onset(If not a control) 1 YR
Age at Diagnosis(If not a control) 3 YR
Racial Category White
Country GERMANY
 
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
  (Baseline)
Mutation Information
Gene, variant, consequence, and exon number:  SLC6A8, C.1260_1281DEL, P.GLY421ALAFSTER35, FRAMESHIFT
Zygosity:  Hemizygous
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  1 YEAR
Age at Diagnosis:  3 YEARS
In Utero History Information
Birth History Information
Dysmorphic Features
Microcephaly
Neurological Symptoms
Hypotonia
Seizures
White matter issues
Additional Information:  INCOMPLETE MYELINATION OF THE SUPRATENTORIAL WHITE MANNER GAIT ABNORMALITY NO SEIZURE WITHOUT AN EXTERNAL CAUSE AND WITHOUT EXCITEMENT
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Additional Information:  FLAT FEET JOINT HYPERMOBILITY
Developmental Milestones
Delayed speech and language development
Delayed fine motor skills
Running:  Achieved and maintained
Additional Information:  PSYCHOMOTOR RETARDATION FIRST WORD AT 2.5 YEARS OF AGE FREE RUN AT 2 YEARS OF AGE SPEAKING 2-WORD SENTENCES WITH A VOCABULARY OF 200 WORDS
Gastrointestinal Symptoms
Constipation
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Happy personality
Behavioral problems
Additional Information:  MENTAL IMPAIRMENT IMPULSE CONTROL DISORDER WITH SCREAMING ATTACKS AND SYNCOPE BELOW AVERAGE COGNITIVE PERFORMANCE LEVEL
Additional Information
Testing Performed
Neurological Testing:  MRI: MASSIVELY REDUCED CREATINE RESPONSE; NARROW BAR, VAGUE SIGNAL INCREASE EEG: GENERALIZED ABNORMAL BEAT ACTIVITY; NO EVIDENCE OF EPILEPSY; PATHOLOGICAL WAKEFULNESS-TIREDNESS-SLEEP UP TO STAGE 3, DUE TO MASSIVE FOCAL HSA IN THE FORM OF AMPLITUDE-HISH SHARP SLOW WAVES WITH MAXIMUM RIGHT OARIETO-OCCIPITAL. THERE IS ALSO PHASE REVERSAL.
Cognitive and Behavioral Testing:  COGNITIVE DEVELOPMENT AROUND 24-26 MONTHS WHEN TESTED AT 3 YEARS AND 9 MONTHS
Metabolic, Hematologic, and Endocrinologic Testing:  URINE CREATINE: 253.4 UMOL/KG/24H (H) URINE PH 8.5 (H) URINE LEUKOCYTE 54.0 (H)
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
horseback therapy
Medications
 MOVICOL JUNIOR, CREATINE, GLYCINE, ARGININE
Family History
 MUTATION INHERITED FROM MOSAIC CARRIER MOTHER
Remarks Clinically affected. See "Phenotypic Data" tab; making good progress with current therapy. Fibro is GM28292; Unaffected mother is GM28293 and GM28295.

External Links

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Gene Cards SLC6A8
Gene Ontology GO:0001504 neurotransmitter uptake
GO:0005309 creatine:sodium symporter activity
GO:0005328 neurotransmitter:sodium symporter activity
GO:0005887 integral to plasma membrane
GO:0006836 neurotransmitter transport
GO:0006936 muscle contraction
GO:0015293 symporter activity
NCBI Gene Gene ID:6535
NCBI GTR 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8
300352 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
OMIM 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8
300352 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

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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