GM28757
LCL from B-Lymphocyte
Description:
CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
GUANIDINOACETATE METHYLTRANSFERASE; GAMT
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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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Subject Type
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parent(s) and child(ren)
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Ethnicity
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U.K.
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Country of Origin
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USA
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Family Member
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2
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Family History
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Y
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Relation to Proband
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brother
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| Gene |
GAMT |
| Chromosomal Location |
19p13.3 |
| Allelic Variant 1 |
p.V78E; CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 |
| Identified Mutation |
c.233T>A |
| |
| Gene |
GAMT |
| Chromosomal Location |
19p13.3 |
| Allelic Variant 2 |
R105GfsX26; CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 |
| Identified Mutation |
c.299_c.311 dup13 |
| Demographic Data |
| Relation to Proband |
brother |
| Age at Sampling |
10 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
8 DA |
| 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: |
GAMT, C.299_C.311DUP13(P.R105GFSX26), EXON 2 |
| Zygosity: |
Heterozygous |
| Other variants: |
GAMT, C.233T>A (P.V78E), EXON 2 |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
8 DAY |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Additional Information: |
MET ALL DEVELOPMENTAL MILESTONES AT 12 MONTHS OF AGE. |
| 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 |
| Treatments and Assistive Devices |
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| Medications |
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CREATINE, ORNITHINE, SODIUM BENZOATE. |
| Family History |
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ELDER SISTER WAS DIAGNOSED WITH GAMT DEFICIENCY (CCDS2). |
| Remarks |
Currently asymptomatic due to early clinical intervention. Patient 5 of Viau 2013 (PMID: 24071436), and patient 2 of Stockler-Ipsiroglu (PMID: 24268530). Diagnosed at 8 days of age due to family history. Therapy with creatine, ornithine, and sodium benzoa |
| Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A, Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring Molecular genetics and metabolism111:16-25 2013 |
| PubMed ID: 24268530 |
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| Viau KS, Ernst SL, Pasquali M, Botto LD, Hedlund G, Longo N, Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency Molecular genetics and metabolism110:255-62 2013 |
| PubMed ID: 24071436 |
| Split Ratio |
1:7 |
| 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 |
- |
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