GM28475

GM28475 Fibroblast from Skin, Skin

Description:

EHLERS-DANLOS SYNDROME, TYPE VI
PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1

Affected:

Yes

Sex:

Female

Age:

3 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

More than one race

Ethnicity

Hispanic/Latino

Ethnicity

JEWISH, SIRIAN

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

See "Phenotypic Data" Tab

Characterizations

PDL at Freeze

9.37

Passage Frozen

Gene

PLOD1

Chromosomal Location

1p36.3-p36.2

Allelic Variant 2

Gly159ValfsTer68; EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1

Identified Mutation

c476delG (p.Gly159ValfsTer68)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

3 YR

Sex

Female

Age at Diagnosis(If not a control)

9 MO

Hispanic or Latino/Not Hispanic or Latino

Hispanic/Latino

Racial Category

More than one race

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

SEQUENCING REVEALED A HOMOZYGOUS PATHOGENIC VARIANT (C.476DELG) IN THE PLOD1 GENE RESULTING IN A FRAMESHIFT MUTATION (P.GLY159VALFSTER68).

Zygosity:

Homozygous

Age of Symptom Onset and Age at Diagnosis

Age at Diagnosis:

9 MONTHS

In Utero History Information

Birth History Information

Dysmorphic Features

Additional Information:

SLENDER HABITUS, MARFANOID IN APPEARANCE; PROMINENT FOREHEAD; BITEMPORAL HOLLOWING;

Neurological Symptoms

Hypotonia

Additional Information:

CENTRAL NERVOUS SYSTEM HEMORRHAGE; BRACHIAL PLEXUS INJURY;

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Scoliosis

Additional Information:

LOW TONE; KYPHOSCOLIOSIS; ARM INJURY; HYPEREXTENSIBLE; INCREASED FLEXIBILITY ON ALL JOINTS;

Developmental Milestones

Additional Information:

DIFFICULTIES WITH CRAWLING AND STANDING; CANNOT BEAR WEIGHT ON ARMS;

Gastrointestinal Symptoms

Genitourinary Symptoms

Additional Information:

URINE SCREEN SHOWED DEOXY-PRYIDINOLINE/PYRIDINOLINE RATIO MARKEDLY INCREASED

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Uncategorized Symptoms:

SENSITIVE SKIN; KERATOSIS PILARIS ON LEGS;

Testing Performed

Neurological Testing:

BRAIN MRI SHOWED ENLARGEMENT OF HEMORRHAGIC CAVITY ON RIGHT SIDE, MILDLY INCREASED SIZE OF THIRD AND LATERAL VENTRICLES; SPINE MRI SHOWED MILDLY THICKENED FRIABLE FATTY FILUM AT LUMBOSACRAL JUNCTION; BRACHIAL PLEXUS MRI SHOWS SLIGHT THICKENING OF RIGHT C7 PROXIMAL RADIUS AND RIGHT BRACHIAL PLEXUS TRACTION INJURY WITH POSTTRAUMATIC NEUROMA

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Wheelchair or ambulation devices

Surgeries

BRACHIAL PLEXUS SURGERY

Medications

Family History

NO FAMILY HISTORY OF ELHERS-DANLOS SYNDROME; GRANDFATHER HAS A HISTORY OF SEIZURES; GRANDMOTHER HAS A HISTORY OF THYROID DISEASE

Remarks

See "Phenotypic Data" Tab