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NA28096 DNA from Fibroblast

Description:

CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
GUANIDINOACETATE METHYLTRANSFERASE; GAMT

Affected:

Yes

Sex:

Male

Age:

16 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
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

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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

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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
Other variants:  No Data
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
Abnormal fetal heart rate or rhythm
Fetal growth issues
Advanced maternal age
Decreased fetal movement
Intrauterine growth restriction
Oligohydramnios
Polyhydramnios
Assisted reproduction
Additional Information:  No Data
Birth History Information
Low birth weight
Jaundice
Difficulty breathing
Abnormal serum screen
Failure to thrive
Positive newborn screen
Caesarian section
Neural tube defect
Meconium ileus
Gastroischisis
Premature delivery
Additional Information:  LOW FETAL HEART RATE
Dysmorphic Features
Strabismus
Coarse facies
Short philtrum
Wide mouth
Cleft lip
Cleft palate
Cupped ears
Thick fleshy lips
Widely-spaced teeth
Tented cupid
Fetal pads
Simian crease
Abnormal hands or feet
Hypertelorism
Hypotelorism
Macrocephaly
Microcephaly
Holoprosencephaly
Additional Information:  No Data
Neurological Symptoms
Neuropathy:  No Data
Lissencephaly
Cerebral palsy
Corpus callosum abnormalities
Ataxia
Chorea
Dystonia
Hypertonia
Hypotonia
Seizures
Structural brain anomaly
Hydrocephalus
Sleep abnormalities
Polymicrogyria
Unstable gait
Dandy walker
White matter issues
Basal ganglia damage
Additional Information:  INTRACTABLE SEIZURES
Optical and Audiological Symptoms
Defective vision
Pupil abnormality
Cornea abnormality
Nystagmus
Optic disk palor
Optic nerve damage
Blindness
Deafness
Defective hearing
Blepharitis
Congenital exotropia
Alacrima
Additional Information:  No Data
Musculoskeletal Symptoms
Acromelia
Rhizomelia
Club foot
Contractures
Scoliosis
Kyphosis
Skeletal dysplasia
Vertebral anomalies
Non-ambulatory
Additional Information:  No Data
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
Abnormal height for age
Abnormal weight for age
Holding Head Up Without Assistance:  No Data
Sitting Without Assistance:  No Data
Walking Without Assistance:  No Data
Running:  No Data
Additional Information:  No Data
Gastrointestinal Symptoms
Hepatosplenomegaly
Pyloric stenosis
Hirschsprung
Bloating
Constipation
Gastrointestinal reflux
Eating difficulties
Cholecystectomy
Liver abnormalities
Pancreatitis
Esophageal atresia
Additional Information:  No Data
Genitourinary Symptoms
Kidney abnormalities
Abnormalities of the ureter
Abnormalities of the urethra
Polycystic kidneys
Renal agenesis
Urethral obstruction
Hydronephrosis
Megacystis
Urinary tract infection
Ovarian cancer
Cryptorchidism
Ambiguous genitalia
Additional Information:  No Data
Respiratory and Cardiovascular Symptoms
Hypoplastic left heart
Hypoplastic right heart
Coarctation of aorta
Atrial septal defect
AV canal defect
Tetralogy of fallot
Truncus arteriosus
Ebstein anomaly
Heart murmur
Poor circulation
Breathing irregularities
Pneumothorax
Diaphragmatic hernia
Asthma
Pulmonary valve atresia
Additional Information:  No Data
Cognitive and Behavioral Symptoms
Happy personality
Anxiety
Mood disorder
Behavioral problems
Autism spectrum disorder
Sensory processing disorder
Aggression
Memory loss
Sleep disturbances
Learning disability
Attention deficit hyperactivity disorder
Intellectual Disability:  No Data
Additional Information:  NON-VERBAL; AT 5 YRS OLD: SOME STEROTYPIES AND OBSESSIVE BEHAVIOR
Additional Information
Uncategorized Symptoms:  No Data
Testing Performed
Neurological Testing:  No Data
Optical and Audiological Testing:  No Data
Musculoskeletal and Developmental Testing:  No Data
Respiratory and Cardiovascular Testing:  No Data
Cognitive and Behavioral Testing:  No Data
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
Wheelchair or ambulation devices
Orthotics
Service animal
Hearing aid
Communication or learning devices
music therapy
horseback therapy
craniosacral therapy
glasses
Surgeries  No Data
Additional Testing:  No Data
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
 No Data

External Links

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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
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
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