| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
4 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING (WES) OF GENOMIC DNA TRIO ANALYSIS REVEALED 2 PATHOGENIC VARIANTS ASSOCIATED WITH AUTOSOMAL RECESSIVE LEIGH SYNDROME AND SURF1 MITOCHONDRIAL COMPLEX IV DEFICIENCY; COMPOUND HETEROZYGOUS VARIANTS IN THE SURF1 GENE: MATERNALLY INHERITED C.312_321DELINSAT (P.LEU105*) IN EXON 4 AND PATERNALLY INHERITED C.688C>T (P.ARG230*) IN EXON 7 |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
DIAGNOSED AT 4 YEARS OF AGE BY A GENETICIST |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
|
| Dysmorphic Features |
| |
|
| Additional Information: |
HIRSUTISM |
| Neurological Symptoms |
| |
Ataxia
|
| Additional Information: |
DYSMETRIA, TREMOR; NEUROLOGICAL REGRESSION, GAIT ATAXIA, BRAINSTEM AND CERVICAL SPINAL CORD LESIONS SUGGESTIVE OF BRAINSTEM ENCEPHALITIS OR ADEM OR MILLER FISCHER) |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
MUSCLE WEAKNESS, SHORT STATURE |
| Developmental Milestones |
| |
Delayed speech and language development
Delayed gross motor skills
|
| Running: |
Not achieved and not maintained |
| Additional Information: |
REGRESSION IN SPEECH - SLOW SPEECH; <50% SPEECH INTELLIGIBLE AT 3 YEARS OF AGE; NO JUMPING OR RUNNING |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
HISTORY OF GUILLAIN-BARRE, SURF1-ASSOCIATED MITOCHONDRIAL COMPLEX IV DEFICIENCY |
| Testing Performed |
| Neurological Testing: |
BRAIN STEM AND CERVICAL CORD LESIONS |
| Cognitive and Behavioral Testing: |
ABNORMAL BRAIN MRI SHOWING DEGENERATIVE DISEASE; INVOLVEMENT OF THE SUBTHALAMIC; CEREBELLUM ATROPHY WILL DEVELOP OVER TIME |
| Uncategorized Testing: |
KARYOTYPE NEGATIVE, 46,XX |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Additional Testing: |
PHYSICAL EXAM AT 4 YEARS OF AGE: GENERALLY HEALTHY-LOOKING, NO CARDIO-RESPIRATORY DISTRESS, ANICTERIC, ACYANOTIC, WELL-NOURISHED, WLL-HYDRATED, AWAKE, ALERT, NORMAL CHEST CONFIGURATION, HEAD NORMOCEPHALIC, EARS AND EYES NORMAL, NORMAL BREATH SOUNDS ON AUSCULTATION, NO HEART MURMURS, NO PERIPHERAL EDEMA, REGULAR RATE AND RHYTHM, NO VISCEROMEGALY, NO MASSES, NORMOACTIVE BOWEL SOUNDS, NO SCOLIOSIS, NORMAL GENITALIA, NO PETECHIAE OR HYPER- OR HYPO- SKIN PIGMENTED LESIONS, HYPERMOBILE JOINTS, NEUROLOGICAL: LOW TONE TITUBATION, DYSMETRIA, TREMOR, ATAXIA, ASSESSMENT: DEMYELINATING CNS DISEASE AND MITOCHONDRIAL METABOLISM DISORDERS |
| Medications |
| |
MITO COCKTAIL WITH COENZYMEQ-10, VITAMIN C, VITAMIN E, VITAMIN B COMPLEX, AND ANTIOXIDANTS |
| Family History |
| |
MOTHER IS HETEROZYGOUS FOR C.312_321DELINSAT (P.LEU105*) AND FATHER IS HETEROZYGOUS FOR C.688C>T (P.ARG230*) VARIANT IN THE SURF1 GENE; HEALTHY MOTHER; HEALTHY FATHER WITH DYSLEXIA; HEALTHY FULL-SISTER; PATERNAL HALF SISTER IS IN SPEECH THERAPY BUT IS OTHERWISE HEALTHY; MATERNAL AUNT HAS DIGESTIVE PROBLEMS; MATERNAL HALF-UNCLE WITH UNKNOWN HEALTH HISTORY; MATERNAL GRANDFATHER HAS COLON CANCER; HEALTHY MATERNAL GRANDMOTHER; HEALTHY PATERNAL AUNT WITH HEALTHY CHILDREN; PATERNAL HALF UNCLE HAS A RIB THAT STICKS OUT SIMILAR TO THAT OF THE PATIENT, BUT IS HEALTHY; PATERNAL GRANDFATHER WITH AN UNKNOWN HEALTH HISTORY; PATERNAL GRANDMOTHER WITH DIABETES AND BREAST CANCER; PATERNAL GREAT-GRANDMOTHER DIED OF BREAST CANCER; PATERNAL GREAT-GREAT GRANDMOTHER ALSO HAD BREAST CANCER; MATERNAL ANCESTRY IS ENGLISH/GERMAN; PATERNAL ANCESTRY IS MEXICAN/NATIVE AMERICAN/CAUCASIAN; NO CONSANGUINITY |
| Remarks |
Clinically affected; See "Phenotypic Data" tab. |