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GM28096
Fibroblast
from
Skin, Skin
Description:
CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
GUANIDINOACETATE METHYLTRANSFERASE; GAMT
Affected:
Yes
Sex:
Male
Age:
16
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Biopsy Source
Skin
Cell Type
Fibroblast
Tissue Type
Skin
Transformant
Untransformed
Sample Source
Fibroblast from Skin, Skin
Race
White
Ethnicity
Not Hispanic/Latino
Ethnicity
German
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
See Phenotypic Data Tab
Characterizations
PDL at Freeze
7
Passage Frozen
3
Gene
GAMT
Chromosomal Location
19p13.3
Allelic Variant 1
601240.0007
; CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
Identified Mutation
c.522G>A (P.W174X)
Gene
GAMT
Chromosomal Location
19p13.3
Allelic Variant 1
601240.0001
; CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
Identified Mutation
c.327G>A (p.K109K, splice site mutation)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
16 YR
Sex
Male
Age of Onset(If not a control)
6 MO
Age at Diagnosis(If not a control)
5 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:
TARGETED SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A HETEROZYGOUS PATHOGENIC VARIANT (C.522G>A) IN EXON 5 OF THE GAMT GENE (NM_000156.6) RESULTING IN A NONSENSE MUTATION (P.W174X). TARGETED SEQUENCING ANALYSIS OF GENOMIC DNA ALSO REVEALED A HETEROZYGOUS VARIANT (C.327G>A) IN EXON 2 OF THE GAMT GENE (NM_000156.6) RESULTING IN A SPLICE SITE MUTATION (P.K109K).
Zygosity:
Heterozygous
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
6 MONTHS
Age at Diagnosis:
5 YEARS, 9 MONTHS
In Utero History Information
Birth History Information
Jaundice
Additional Information:
LOW FETAL HEART RATE
Dysmorphic Features
Neurological Symptoms
Hypotonia
Seizures
Unstable gait
Additional Information:
INTRACTABLE SEIZURES
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Developmental Milestones
Delayed speech and language development
Global developmental delay
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Learning disability
Additional Information:
NON-VERBAL; AT 5 YRS OLD: SOME STEROTYPIES AND OBSESSIVE BEHAVIOR
Additional Information
Testing Performed
Metabolic, Hematologic, and Endocrinologic Testing:
AT 5 YRS OLD: PLASMA CREATINE (MICROMOLES/L) 6.9 L (20-110 NORMAL RANGE ABOVE 2YRS); PLASMA GUANIDINOACETATE (MICROMOLES/L) 17.9 H (0.3-2.8 NORMAL RANGE ABOVE 2YRS); URINARY GUANIDINOACETATE (MICROMOLES/L) 1968 H (20-656 NORMAL RANGE 0-6 YRS); GUANIDINOACETATE/CREATINE (MILLIMOLES/MOLE) 556 H (10-130 NORMAL RANGE 0-6 YRS)
Uncategorized Testing:
AT 5 YRS OLD: VALPROIC ACID DETECTED; ELEVATED URACIL
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Communication or learning devices
Medications
CREATINE; ORNITHINE; PROTEIN RESTRICTION; LEVETIRACETAM (KEPPRA) 100MG/ML; DIASTAT ACUDIAL (5-7.5-10 MG); DEPAKOTE (125 MG); DIAZEPAM (5 MG/5 ML)
Family History
External Links
Gene Cards
GAMT
Gene Ontology
GO:0006601 creatine biosynthesis
GO:0006936 muscle contraction
GO:0008168 methyltransferase activity
GO:0016740 transferase activity
GO:0030731 guanidinoacetate N-methyltransferase activity
NCBI Gene
Gene ID:2593
NCBI GTR
601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT
612736 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
OMIM
601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT
612736 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
Culture Protocols
Cumulative PDL at Freeze
7
Passage Frozen
3
Split Ratio
1:3
Temperature
37 C
Percent CO2
5%
Percent O2
3%
Medium
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not inactivated
Supplement
-
Pricing
International/Commercial/For-profit:
$373.00
USD
U.S. Academic/Non-profit/Government:
$216.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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