| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
15 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
3 YR |
| Age at Diagnosis(If not a control) |
8 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: |
NEXT GENERATION SEQUENCING (NGS) REVEALED THAT DONOR HAS PATHOGENIC COMPOUND HETEROZYGOUS MUTATIONS IN SURF1: C.312_321DELINSAT (P.LEU105*) IN EXON 4 RESULTING IN A FRAMESHIFT (CHR9:136221516) AND C.-13_11DEL24 IN EXON 1 (CHR9:136223319) RESULTING IN A DELETION |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
NGS REVEALED PATHOGENIC HETEROZYGOUS MUTATIONS IN ELOVL5: C.3O4C>T (P.GLN102*), EXON 3 (CHR6:53152683), RS150583340, AND IN C7ORF10: C.1006C>T (P.ARG336TRP), EXON 11 (CHR7:40498796), RS137852860; HETEROZYGOUS VARIANTS OF UNKNOWN SIGNIFICANCE (VUS) WERE DETECTED IN TAP1: C.1231-3C>T SPLICE SITE VARIANT, EXON 5 (CHR6:32818297), RS56366814; SUCLA2: C1099G>A (P.ASP367ASN), EXON 8 (CHR13:48528283), RS117412559; CACNA1S: C.5570G>A (P.SER1857ASN), EXON 44 (CHR1:201009011), RS72749169; DHTKD1: C.209C>G (P.ALA70GLY), EXON 2 (CHR10:12123525), RS34644609; POLG: C.3428A>G (P.GLU1143GLY), EXON 20 (CHR15:89861826), RS2307441; SLC27A5: C.777DELA (P.VAL261TRPFS*55), EXON 2 (CHR19:59022209); MGAM: C.1384A>G (PSER462GLY), EXON 11 (CHR7:141730471), RS76276410; C21ORF33: C.442G>A (P.VAL148MET), EXON 5 (CHR21:45560145), RS17264865; ACSM3: C.299T>C (P.LEU100PRO), EXON2 (CHR:16:20787240), RS5713; ICT1: C.23G>T (P.ARG8LEU), EXON 1 (CHR17:73008804), RS3744206 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
3-4 YEARS |
| Age at Diagnosis: |
8 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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Dystonia
Unstable gait
Basal ganglia damage
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| Additional Information: |
GAIT ABNORMALITY |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Additional Information: |
POOR SOMATIC GROWTH |
| 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: |
ABNORMAL MRI OF HEAD; MRI AT 13 YEARS: ABNORMAL SIGNAL IN BILATERAL LENTIFORM NUCLEI - PROGRESSIVE BILATERAL BASAL GANGLIA LESIONS |
| Treatments and Assistive Devices |
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| Medications |
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SERTRALINE (ZOLOFT); POLYETHYLENE GLYCOL (MIRALAX); MITOCHONDRIAL COCKTAIL SUPPLEMENT: METHYLFOLATE, COQ10 AND "B 50" VITAMIN COMPLEX |
| Family History |
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UNAFFECTED CARRIER MOTHER IS GM28025 |
| Remarks |
See "Phenotypic Data" tab; unaffected carrier mother is GM28025 (fibro). |