| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
23 MO |
| Age at Diagnosis(If not a control) |
28 MO |
| 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: |
NUCLEAR GENE PANEL SEQUENCING AND DELETION/DUPLICATION ANALYSIS OF THE BLOOD REVEALED THAT THIS INDIVIDUAL IS COMPOUND HETEROZYGOUS WITH TWO DISEASE-CAUSING MUTATIONS IN THE SURF1 GENE (NM_003172.2): C.574 C>T (P.ARG192TRP) IN EXON 6, AND C.312_321DEL10INSAT (P.LEU105X) IN EXON 4 |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
HETEROZYGOUS FOR A LIKELY DISEASE-CAUSING VARIANT IN RARS2, C.1366 C>T (P.ARG456CYS) AND A VARIANT OF UNKNOWN SIGNIFICANCE, NUBPL C.545T>C (P.VAL182ALA) |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
DIAGNOSED BY A NEUROLOGIST AT 28 MONTHS OF AGE; DIAGNOSED WITH LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY |
| In Utero History Information |
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| Birth History Information |
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Failure to thrive
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| Dysmorphic Features |
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| Neurological Symptoms |
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| 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 |
| Neurological Testing: |
MRI - LESIONS ON BRAINSTEM AND BASAL GANGLIA; AREAS OF ABNORMAL T2 SIGNAL WITH NECROSIS IN THE BRAINSTEM AND BASAL GANGLIA CONSISTENT WITH CT FINDINGS SUGGESTIVE OF METABOLIC DISEASE - LEIGH SYNDROME MITOCHONDRIAL DISEASE |
| Metabolic, Hematologic, and Endocrinologic Testing: |
MR SPECTROSCOPY STUDY SHOWED SMALL INVERTED PEAK, POSSIBLY LACTATE; 1.15 NAA TO CREATINE RATIO; 1.32 NAA TO CHOLINE RATIO; 0.78 CHOLINE TO CREATINE RATIO; THE BRAIN HAS MYELINATED ALONG THE APPROPRIATE AND EXPECTED MILESTONES FOR THE AGE; NO HEMORRHAGE PRODUCTS, NORMAL VENTRICLES, NORMAL FLOW-VOIDS IN INTRACRANIAL VESSELS, CORPUS CALLOSUM AND HYPOTHALAMIC PITUITARY AXIS ARE NORMALLY FORMED; NORMAL-APPEARING OPTIC APPARATUS, MILD SCATTERED MUCOSAL THICKENING OF THE PARANASAL SINUSES; MINIMAL RIGHT MASTOID FLUID, FENESTRATION IN THE DESCENDING SAGITTAL SINUS |
| Uncategorized Testing: |
SURGERIES: G-TUBE PLACEMENT, TONSILLECTOMY, ADENOID REMOVAL |
| Treatments and Assistive Devices |
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Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
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| Additional Testing: |
OTHER THERAPY - PSYCHOLOGICAL THERAPY; ASSISTIVE DEVICE: BRACES |
| Medications |
| Family History |
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UNAFFECTED MOTHER IS GM28009 |
| Remarks |
See "Phenotypic Data" tab; iPSC line is GM28862; unaffected carrier mother is GM28009 (fibro); |