GM28284

GM28284 Fibroblast from Skin, Back

Description:

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5
BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN
WD REPEAT-CONTAINING PROTEIN 45; WDR45

Affected:

Yes

Sex:

Female

Age:

7 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Back

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Back

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

German-Irish

Country of Origin

USA

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Characterizations

PDL at Freeze

6.19

Passage Frozen

Gene

WDR45

Chromosomal Location

Xp11.23

Allelic Variant 1

p.Gly164Ter; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5

Identified Mutation

c.490G>T (p.G164X)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

7 YR

Sex

Female

Age of Onset(If not a control)

6 MO

Age at Diagnosis(If not a control)

3 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:

WHOLE EXOME SEQUENCING OF GENOMIC DNA REVEALED A LIKELY PATHOGENIC VARIANT (C.490G>T) IN EXON 8 OF THE WDR45 GENE (NM_007075.3) RESULTING IN A NONSENSE MUTATION (P.GLY164TER)

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

6 MONTHS

Age at Diagnosis:

3 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Additional Information:

MILD DYSMORPHIC FEATURES

Neurological Symptoms

Hypotonia
Seizures

Additional Information:

BRAIN ATROPHY; MRI REVEALED SYMMETRIC T2 AND SWI HYPOINTENSITY INVOLVING BILATERAL SUBSTANTIA NIGRA, NO DEFINITE SIGNAL ABNORMALITY SEEN IN GLOBUS PALLIDUS OR DENTATE NUCLEI, PROMINENT SUBARACHNOID SPACES; EEGS HAVE SHOWN RUNS OF NOTCHED OIRDA, INTERPRETED TO BE EPILEPTIFORM; RECURRENT PROLONGED FEBRILE SEIZURES SINCE AGE OF 14 MONTHS

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Delayed speech and language development
Global developmental delay

Additional Information:

DELAYED DEVELOPMENT; POOR MOTOR FUNCTION; IMPAIRED SPEECH DEVELOPMENT

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Autism spectrum disorder

Intellectual Disability:

Moderate

Additional Information:

INTELLECTUAL DISABILITY

Additional Information

Testing Performed

Cognitive and Behavioral Testing:

VERBAL BEHAVIOR MILESTONES ASSESSMENT AND PLACEMENT PROGRAM INDICATED AGE EQUIVALENT ABILITIES OF 18 MONTHS; PRESCHOOL LANGUAGE SCALES INDICATED AGE EQUIVALENT ABILITIES OF 16 MONTHS; LANGUAGE COMPREHENSION INDICATED AGE EQUIVALENT ABILITIES OF 13 MONTHS; EXPRESSIVE LANGUAGE INDICATED AGE EQUIVALENT ABILITIES OF 19 MONTHS

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy

Medications

KEPPRA

Family History

External Links

Gene Cards

WDR45

NCBI GTR

300526 WD REPEAT-CONTAINING PROTEIN 45; WDR45

300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5

OMIM

300526 WD REPEAT-CONTAINING PROTEIN 45; WDR45

300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5

Culture Protocols

Cumulative PDL at Freeze

6.19

Passage Frozen

Split Ratio

1:3

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:

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN WD REPEAT-CONTAINING PROTEIN 45; WDR45

Affected:

Yes

Sex:

Female

Age:

7 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5
BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN
WD REPEAT-CONTAINING PROTEIN 45; WDR45