| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
15 MO |
| Age at Diagnosis(If not a control) |
15 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
POLAND |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
GENE AMPLIFICATION AND SANGER SEQUENCING OF BLOOD DNA IDENTIFIED HETEROZYGOUS PATHOGENIC VARIANTS IN THE SURF1 GENE (NM_003172.3, NP_003163.1): C.845_846DELCT (P.SER282CYSFS*9) IN EXON 9 RESULTING IN A FRAMESHIFT AT GENOMIC LOCATION CHR9 (GRCH38):G.133351970-133351971 AND C.312_321DELINSAT (P.LEU105*) IN EXON 4 RESULTING IN A NONSENSE CODON AT GENOMIC LOCATION CHR9(GRCH38):G.133354661_133354670. |
| Zygosity: |
Heterozygous |
| Other variants: |
THE PRESENCE OF MUTATIONS, INCLUDING C.418G>A, IN THE TESTED FRAGMENT OF THE SCO2 GENE WAS NOT DEMONSTRATED; NO PATHOGENIC VARIANTS, INCLUDING M.8993T>G, M.8993T>C, AND M.9185T>C WERE DETECTED IN THE MTATP6 GENE |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
15 MONTHS |
| Age at Diagnosis: |
15 MONTHS; DIAGNOSED BY GENETICIST |
| 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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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Additional Information: |
REGRESSION OF MOTOR DEVELOPMENT AT 15 MONTHS OF AGE; DID NOT WALK ALONE AT 15 MONTHS; ONCE PLACED ON SPECIALIZED MILK, GAINED WEIGHT AND STRENGTH AND DEVELOPED NORMALLY OR AGE APPROPRIATELY - BY LEARNING NEW WORDS, COUNTING, ETC.; LATER WAS ABLE TO EAT, SAT AND STOOD ALONE AND WALKED SUPPORTED BY HANDS; AT 2.5 YEARS OF AGE NEEDED SURGERY TO EXTRACT 2 FRONT TEETH, THEN ACQUIRED AN INFECTION AND HAD AN ACCUMULATION OF CARBON DIOXIDE IN BODY; STOPPED WALKING BY THE HANDS, SITTING AND STANDING ALONE; REHABILITATION CAUSED A REGAIN IN STRENGTH; 5 MONTHS LATER DEVELOPED PNEUMONIA AND OTHER INFECTIONS AFTER BEING HOSPITALIZED AND WAS PLACED ON A RESPIRATOR; TRACHEOSTOMY AND G-TUBE PLACEMENT FOLLOWED; RECEIVED MECHANICAL VENTILATION AT NIGHT AFTER DISCHARGE FROM HOSPITAL; CURRENTLY DOES NOT REQUIRE MECHANICAL VENTILATION AND IS ABLE TO BREATHE INDEPENDENTLY |
| 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 AT 15 MONTHS OF AGE SHOWED VISIBLE HIGH FREQUENCY BANDS (INCREASED SIGNAL) SYMMETRICALLY ON BOTH SIDES IN THE MIDBRAIN; SIMILAR BUT LESS MARKED CHANGES IN AREA OF NUCLEUS DENTATUS; DEGENERATIVE CHANGES IN THE WHITE MATTER PARAVENTRICULAR; SUGGESTED CHANGES IN GENETIC METABOLIC DISEASE IN FIELD OF MITOCHONDRIAL LEUKOENCEPHALOPATHY - NOT FULLY DEVELOPED LEIGH SYNDROME |
| Treatments and Assistive Devices |
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Occupational therapy
Physical therapy
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| Additional Testing: |
ASSISTIVE DEVICE: STANDING FRAME;
SURGERIES: TRACHEOSTOMY, G-TUBE |
| Medications |
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COENZYME Q SUPPLEMENT |
| Family History |
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PARENTS GM28030 (FATHER) AND GM28032 (MOTHER) ARE UNAFFECTED CARRIERS; IT IS NOT KNOWN WHICH VARIANT EACH PARENT CARRIES. |
| Remarks |
Clinically affected. See "Phenotypic Data" Tab; unaffected carrier parents are GM28030 (father, fibro) and GM28032 (mother, fibro). |