GM28573

GM28573 Fibroblast from Skin, Arm

Description:

MYOPATHY, DISTAL, 5; MPD5
ADENYLOSUCCINATE SYNTHASE 1; ADSS1

Affected:

Yes

Sex:

Female

Age:

19 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Arm

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Arm

Race

Asian

Subject Type

family with at least 3 members, including 1 proband, not a trio

Ethnicity

Indian

Country of Origin

USA

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. Peripheral muscle fatigue; proximal muscle weakness. Parents are unaffected carriers, GM28581 and GM28582. One similarly affected brother. See "Phenotypic Data" tab.

Characterizations

PDL at Freeze

5.92

Passage Frozen

Gene

ADSSL1

Chromosomal Location

14q32.33

Allelic Variant 1

612498.0001; ADENYLOSUCCINATE SYNTHASE 1; ADSS1

Identified Mutation

c.910G>A (p.Asp304Asn)

Gene

ADSSL1

Chromosomal Location

14q32.33

Allelic Variant 2

612498.0001; ADENYLOSUCCINATE SYNTHASE 1; ADSS1

Identified Mutation

c.910G>A (p.Asp304Asn)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

19 YR

Sex

Female

Age of Onset(If not a control)

2 YR

Age at Diagnosis(If not a control)

19 YR

Racial Category

Asian

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

HOMOZYGOUS MISSENSE C.910G>A (P.ASP304ASN) PATHOGENIC VARIANT IN THE ADSS1 GENE

Zygosity:

Homozygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

2 YEARS

Age at Diagnosis:

19 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Unstable gait

Additional Information:

SLOW WALKING GAIT.

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Additional Information:

PERIPHERAL MUSCLE FATIQUE AND PROXIMAL MUSCLE WEAKNESS. DISTAL UPPER AND LOWER LIMB WEAKNESS. DIFFICULTY CLIMBING STAIRS.

Developmental Milestones

Running:

Not achieved and not maintained

Additional Information:

UNABLE TO JUMP, STAND ON TOES OR HEELS.

Gastrointestinal Symptoms

Eating difficulties

Additional Information:

SLIGHT DIFFICULTY IN SWALLOWING FOOD

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Uncategorized Symptoms:

FATIGUE AND TIREDNESS

Testing Performed

Uncategorized Testing:

EXOME SEQUENCING; PREVIOUS CMA TESTING NORMAL

Treatments and Assistive Devices

Medications

Family History

ONE AFFECTED BROTHER: SIMILAR SYMPTOMS INCLUDING DIFFICULTY IN STANDING UP FROM SITTING POSITION, FATIGUE AND TIREDNESS.

Remarks

Clinically affected. Peripheral muscle fatigue; proximal muscle weakness. Parents are unaffected carriers, GM28581 and GM28582. One similarly affected brother. See "Phenotypic Data" tab.

External Links

Gene Cards

ADSSL1

NCBI GTR

612498 ADENYLOSUCCINATE SYNTHASE 1; ADSS1

617030 MYOPATHY, DISTAL, 5; MPD5

OMIM

612498 ADENYLOSUCCINATE SYNTHASE 1; ADSS1

617030 MYOPATHY, DISTAL, 5; MPD5

Culture Protocols

Cumulative PDL at Freeze

5.92

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:

MYOPATHY, DISTAL, 5; MPD5 ADENYLOSUCCINATE SYNTHASE 1; ADSS1

Affected:

Yes

Sex:

Female

Age:

19 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

MYOPATHY, DISTAL, 5; MPD5
ADENYLOSUCCINATE SYNTHASE 1; ADSS1