GM28304

GM28304 Fibroblast from Skin, Skin

Description:

BLAU SYNDROME; BLAUS
NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2

Affected:

Yes

Sex:

Male

Age:

9 YR (At Sampling)

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

Subject Type

trio

Ethnicity

Not Hispanic/Latino

Ethnicity

Netherlands

Country of Origin

NETHERLANDS

Family Member

Family History

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); LCL is GM28303.

Characterizations

PDL at Freeze

6.5

Passage Frozen

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)

Age at Diagnosis(If not a control)

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

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

2 YEARS

Age at Diagnosis:

3 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

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

Respiratory and Cardiovascular Testing:

NORMAL EKG AND ECHO

Uncategorized Testing:

SKIN BIOPSY

Treatments and Assistive Devices

glasses

Medications

METHOTREXATE 10MG/WEEK; FOLIUMZUUR 5MG/WEEK

Family History

Remarks

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

Culture Protocols

Cumulative PDL at Freeze

6.5

Passage Frozen

Split Ratio

1:6

Temperature

37 C

Percent CO2

Percent O2

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

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

BLAU SYNDROME; BLAUS NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2

Affected:

Yes

Sex:

Male

Age:

9 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

BLAU SYNDROME; BLAUS
NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2