| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
20 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING (WES) REVEALED THAT DONOR HAS PATHOGENIC COMPOUND HETEROZYGOUS MUTATIONS IN THE SURF1 GENE: C.312_321DEL10INSAT (P.L105X) AND C.574_575INSCTGC (P.R192PFSX8); READS WERE ALIGNED TO HUMAN GENOME BUILD GRCH37/UCSC HG19 |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
20 MONTHS |
| In Utero History Information |
| |
|
| Additional Information: |
PRE-ECLAMPSIA |
| Birth History Information |
| |
Failure to thrive
Caesarian section
|
| Additional Information: |
BORN AT 38 WEEKS; REQUIRED BAGGING AND INTUBATION; HAD TENSION PNEUMOTHORAX AND REQUIRED CHEST TUBE; FEEDING DIFFICULTIES; DYSPHAGIA AND POOR WEIGHT GAIN AT ABOUT 5-6 MONTHS OF AGE (NORMAL PRIOR TO THAT); POOR WEIGHT GAIN; MET MILESTONES DESPITE HYPOTONIA; REGRESSIVE EPISODE AT 3 YEARS |
| Dysmorphic Features |
| |
Coarse facies
|
| Additional Information: |
MILDLY COURSE FACIAL FEATURES |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
MILD TRUNCAL WEAKNESS; HYPOVENTILATORY CHEST (ENDOTRACHEAL TUBE PLACED) |
| Optical and Audiological Symptoms |
| |
Nystagmus
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
SHORT STATURE |
| Developmental Milestones |
| |
|
| Additional Information: |
DEVELOPMENTAL NEUROMOTOR REGRESSION |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
CHRONIC RESPIRATORY FAILURE |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
DYSARTHRIC, CAN SIT ALONE AND WALK WITH GAIT TRAINER |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI, EKG, CEEG (TO CHECK FOR SEIZURES); MRI SHOWED MULTIFOCAL SMALL FOCI OF REDUCED DIFFFUSIVITY SYMMETRICALLY IN THE CENTRUM SEMIOVAL, BRAIN STEM AND CEREBELLUM CONSISTENT WITH LEIGH SYNDROME |
| Cognitive and Behavioral Testing: |
MRI: DEMYELINATION, PUNCTATE LESIONS |
| Metabolic, Hematologic, and Endocrinologic Testing: |
MILDLY ELEVATED LACTATE; TSH, T4, CORTISOL, AMMONIA, BHB; INDIRECT CALORIMETRY TO GUIDE NUTRITION |
| Uncategorized Testing: |
PRIOR HOSPITALIZATION DUE TO RESPIRATORY DISTRESS SECONDARY TO RHINO/ENTEROVIRUS INFECTION |
| Treatments and Assistive Devices |
| |
Speech therapy
Wheelchair or ambulation devices
Orthotics
|
| Additional Testing: |
SURGERY: TRACHEOSTOMY, G-TUBE PLACEMENT; SUPPORT: BIPAP DURING SLEEP |
| Medications |
| |
MITO COCKTAIL; PRIOR MEDS: KEPPRA, CLONIDINE |
| Family History |
| |
PARENTS ARE CARRIERS; WES AND VARIANT SEGREGATION ANALYSIS REVEALED AUTOSOMAL RECESSIVE INHERITANCE FOR MUTATIONS IN THE SURF1 GENE: C.312_321DEL10INSAT (P.L105X) IS INHERITED FROM THE MOTHER AND C.574_575INSCTGC IS INHERITED FROM THE FATHER. |
| Remarks |
See "Phenotypic Data" tab; unaffected carrier mother with mutation in SURF1 is GM28011. |