| 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 |
Reprogrammed from parental line GM28010 (fibro); see "Phenotypic Data" tab; unaffected carrier mother is GM28009 (fibro). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |