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NA28303
DNA
from
LCL
Description:
BLAU SYNDROME; BLAUS
NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2
Affected:
Yes
Sex:
Male
Age:
9
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Quantity
25 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
DNA from LCL
Race
White
Subject Type
trio
Ethnicity
Not Hispanic/Latino
Ethnicity
Netherlands
Country of Origin
NETHERLANDS
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. Skin abnormalities as the single manifestation. No ling involvement nor uveitis. De novo mutation in the NOD2 gene c.1148A>G (p.Glu383Gly). See "Phenotypic Data" tab. Unaffected parents: mother is GM28305 (LCL) and GM28306 (fibro); father is GM28307(LCL) and GM28308 (fibro); fibro is GM28304.
Characterizations
Gene
NOD2
Chromosomal Location
16q12.1
Allelic Variant 1
p.Glu383Gly; BLAU Syndrome; BLAUS
Identified Mutation
c.1148A>G (p.Giu383Giy)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
9 YR
Sex
Male
Age of Onset(If not a control)
2
Age at Diagnosis(If not a control)
3
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
White
Country
NETHERLANDS
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
NOD2, C.1148A>G (P.GIU383GIY), EXON 4
Zygosity:
Heterozygous
Other variants:
No Data
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
2 YEARS
Age at Diagnosis:
3 YEARS
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:
No Data
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:
No Data
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:
No Data
Additional Information
Uncategorized Symptoms:
EARLY ONSET SARCOIDOSIS: SCATTERED EPITHELIAL CELL GRANULOMAS; LYMPHOCYTIC INFLAMMATORY INFILTRATE; COLLAGEN NECROBIOSIS NOT SEEN; SKIN ABNORMALITIES AIS SINGLE MANIFESTATION
Testing Performed
Neurological Testing:
No Data
Optical and Audiological Testing:
No Data
Musculoskeletal and Developmental Testing:
No Data
Respiratory and Cardiovascular Testing:
NORMAL EKG AND ECHO
Cognitive and Behavioral Testing:
No Data
Metabolic, Hematologic, and Endocrinologic Testing:
No Data
Uncategorized Testing:
SKIN BIOPSY
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
METHOTREXATE 10MG/WEEK; FOLIUMZUUR 5MG/WEEK
Family History
No Data
Remarks
Clinically affected. Skin abnormalities as the single manifestation. No ling involvement nor uveitis. De novo mutation in the NOD2 gene c.1148A>G (p.Glu383Gly). See "Phenotypic Data" tab. Unaffected parents: mother is GM28305 (LCL) and GM28306 (fibro); father is GM28307(LCL) and GM28308 (fibro); fibro is GM28304.
External Links
Gene Cards
NOD2
Gene Ontology
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005622 intracellular
GO:0042981 regulation of apoptosis
NCBI Gene
Gene ID:64127
NCBI GTR
186580 BLAU SYNDROME; BLAUS
605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2
OMIM
186580 BLAU SYNDROME; BLAUS
605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2
Omim Description
ARTHROCUTANEOUVEAL GRANULOMATOSIS; ACUG
BLAU SYNDROME
GRANULOMATOSIS, FAMILIAL, BLAU TYPE
GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS, AND UVEITIS, FAMILIAL
JABS SYNDROME
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES
Pricing
Commercial/For-profit:
$225.00
USD
Academic/Non-profit/Government:
$113.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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