| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
22 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
ISRAEL |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
DONOR IS HETEROZYGOUS FOR A PATHOGENIC MUTATION IN THE ACTA1 GENE, CHR1 (GRCH37): G.229568309T>C, NM_001100.3: C.448A>G (P.THR150ALA) WHICH IS CONSISTENT WITH A GENETIC DIAGNOSIS OF NEMALINE MYOPATHY |
| Zygosity: |
Heterozygous |
| Other variants: |
DONOR IS ALSO HETEROZYGOUS FOR AN UNCLASSIFIED VARIANT OF UNCERTAIN SIGNIFICANCE, DNAJB6 (NM_ 058246.3) CHR7(GRCH37): G157208707T>G, NM_058246.3, C.899-3T>G WHICH IS POSSIBLY CONSISTENT WITH A GENETIC DIAGNOSIS OF LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1E |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
NEUROMUSCULAR ABNORMALITY; PROBABLE NEUROPATHY AND MYOPATHY DISORDERS; MANIFESTATION AT BIRTH |
| Optical and Audiological Symptoms |
| |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
| |
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| 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 |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Musculoskeletal and Developmental Testing: |
DIAGNOSIS CONFIRMED BY MUSCLE BIOPSY, ELECTROMYOGRAPHY (EMG), AND GENETIC TESTING |
| Treatments and Assistive Devices |
| |
|
| Medications |
| Family History |
| |
PARENTS ARE NON-CONSANGUINEOUS AND HAVE NO OTHER AFFECTED CHILD |
| Remarks |
See Phenotypic Data tab. Same donor as GM28910 (iPSC); see Family Number NIGMS00048. |