GM27913

GM27913 Fibroblast from Skin, Skin

Description:

ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1
COLLAGEN, TYPE VI, ALPHA-2; COL6A2

Affected:

Yes

Sex:

Female

Age:

18 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Skin

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Syrian, Sephardic Jewish

Country of Origin

USA

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected. See Phenotypic Data tab.

Characterizations

PDL at Freeze

5.03

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

COL6A2

Chromosomal Location

21q22.3

Allelic Variant 1

p.Arg468Ter; ULLRICH CONGENITAL MUSCULAR DYSTROPHY

Identified Mutation

c.1402C>T (p.Arg468Ter)

Gene

COL6A2

Chromosomal Location

21q22.3

Allelic Variant 2

p.Arg468Ter; ULLRICH CONGENITAL MUSCULAR DYSTROPHY

Identified Mutation

c.1402C>T (p.Arg468Ter)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

18 MO

Sex

Female

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:

EXOME ANALYSIS REVEALED A HOMOZYGOUS MUTATION IN COL6A2 AT POSITION 21:47540981: C.1402C>T (P.ARG468TER), RS374669775, HG19

Zygosity:

Homozygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

BIRTH

In Utero History Information

Additional Information:

FETAL MOVEMENTS LESS ACTIVE COMPARED TO TWIN BROTHER'S

Birth History Information

Additional Information:

DELIVERED AT TERM VIA CESAREAN SECTION AT 37 WEEKS GA FOR OLIGOHYDRAMNIOS; ASPIRATION EVENT; APGAR SCORES OF 7 AND 10; BIRTH WEIGHT 2.3 KG; DECREASED TONE, FLOPPY ECCHYMOTIC HANDS AND FEET; OXYGEN SUPPLEMENTATION AND PHOTOTHERAPY IN NICU; CLOSED REDUCTION HIP SURGERY - SPICA CAST FOR 3 MONTHS AND RHINO BRACE; DIAGNOSED WITH MILD LEFT-SIDED TORTICOLLIS AND KYPHOSIS

Dysmorphic Features

Additional Information:

KERATOSIS PILARIS

Neurological Symptoms

Hypotonia

Additional Information:

CONGENITAL HYPOTONIA; HIP DYSPLASIA; JOINT HYPERLAXITY

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Contractures

Additional Information:

LEFT SIDED HIP CONTRACTURE AT 2 WEEKS; LEFT-SIDED HIP DYSPLASIA, TORTICOLLIS AND KYPHOSIS

Developmental Milestones

Holding Head Up Without Assistance:

Achieved and maintained

Sitting Without Assistance:

Achieved and maintained

Walking Without Assistance:

Not achieved and not maintained

Running:

Not achieved and not maintained

Additional Information:

HEAD CONTROL AT 2 MONTHS, ROLLED OVER COMPLETELY AT 6 MONTHS; SIT INDEPENDENTLY (WHEN PLACED) AT 6 MONTHS; BABBLE AT 6 MONTHS; FIRST WORDS AT 6 MONTHS; BRING HANDS TO MOUTH AT 6 MONTHS; FINGER FEED AT 8 MONTHS; PINCER GRASP AT 9 MONTHS; FROM 8 MONTHS TO 11 MONTHS WAS IN A SPICA CAST; AT 18 MONTHS OF AGE COULD ROLL OVER, SIT AND PULL-TO-STAND STARTING FROM A 90 DEGREE SITTING POSITION; HAS NOT CRAWLED OR WALKED

Gastrointestinal Symptoms

Additional Information:

GOOD APPETITE

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Musculoskeletal and Developmental Testing:

SLIGHTLY ATROPHIC IN THE BILATERAL UPPER AND LOWER EXTREMITIES

Respiratory and Cardiovascular Testing:

NORMAL EKG AND ECG