| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
14 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
1 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
COL6A2, C.954+20_+55DEL36, INTRON DELETION, INTRON 9 |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
COL6A2, C.1970-3C>A, SPLICING, INTRON 25 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| Age at Diagnosis: |
1 YEAR |
| In Utero History Information |
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| Birth History Information |
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| Additional Information: |
FLOPPY AT BIRTH WITH GENERALIZED MUSCLE WEAKNESS |
| Dysmorphic Features |
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| Neurological Symptoms |
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Hypotonia
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| Additional Information: |
POOR SKIN TONE |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Musculoskeletal and Developmental Testing: |
MUSCLE BIOPSY AT 1 YEAR: A SINGLE NECROTIC FIBER AND SCATTERED REGENERATING FIBER AS EVIDENCE OF MYOPATHY; INCREASE OF ENDOMYSIAL CONNECTIVE TISSUE IN SOME FASCICLES REPRESENTING CHRONICITY; SCATTERED HYPERCONTRACTED FIBERS PRESENT; ABNORMAL FIBER SIZE VARIABILITY WITH A MIXTURE OF HYPERTROPHIC AND ATROPHIC FIBERS IN MOST FASCICLES; SOME FIBERS DEMONSTRATING FOCAL INCREASE OR DECREASE OF NADH DEHYDROGENASE ACTIVITY; TYPE I FIBERS SLIGHTLY MORE ABUNDANT THAN TYPE II FIBERS; INCREASES OF ACID PHOSPHATASE AND ALKALINE PHOSPHATASE IN SOME REGENERATING FIBERS. |
| Treatments and Assistive Devices |
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| Surgeries |
FEEDING TUBE PLACEMENT |
| Medications |
| Family History |
| Remarks |
Clinically affected. See "Phenotypic Data" tab. Individual has a compound heterozygous mutation in the COL6A2 gene. The first allele is (inherited recessive) c.1970-3C>A. The other allele is de novo c.954+20_+55del36, which is likely to be an autosomal dominant disease-causing variant. LCL is GM26247. Mother is GM26639 (LCL). Normal 46,XY karyotype. |