| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
16 MO |
| Sex |
Female |
| Age of Onset(If not a control) |
14 MO |
| Age at Diagnosis(If not a control) |
5 YR |
| Racial Category |
American Indian/Alaska Native |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING REVEALED A DE NOVO VARIANT IN THE TFE3 GENE, (C.780+1G>A) |
| Zygosity: |
Heterozygous |
| Other variants: |
WHOLE EXOME SEQUENCING REVEALED 17 OTHER HETEROZYGOUS VARIANTS- PATHOGENIC VARIANT: IDUA (C.1205G>A, MATERNALLY INHERITED); LIKELY PATHOGENIC VARIANT: ASXL1 (C.69DELC, MATERNALLY INHERITED); VARIANTS OF UNKNOWN SIGNIFICANCE (MATERNALLY INHERITED): NARS2 (C.141+5G>C); TTBK2 (C.2386G>T); NLRP12 (C.2701G>C); MYO18B (C.5402G>A); MYO16 (C.4785_4793DUPGCCCCCGCC); TP53BP2 (C.1993C>T); ZNF98 (C.419A>G); VARIANTS OF UNKNOWN SIGNIFICANCE (PATERNALLY INHERITED): TTBK2 (C.3442C>T); NLRP12 (C.2227A>C); MYO18B (C.7356G>C); MYO16 (C.1906A>G); TP53BP2 (C.595G>A); ZNF98 (C.349C>T); ARID1A (C.5779G>C P.ALA1927PRO); SHANK3 (C.4910C>T P.PRO1637LEU; NO INHERITANCE INFORMATION PROVIDED). |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
14 MONTHS |
| Age at Diagnosis: |
5 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Strabismus
Coarse facies
|
| Additional Information: |
POSSIBLE MICROCEPHALY; MALAR HYPOPLASIA; EVERTED LOWER LIP AND OPEN MOUTH; EPICANTHAL FOLDS ON EYES; DOWN SLANTING PALPEBRAL FISSURES; MILD EYELID PTOSIS; PROMINENT AND MILD POSTERIORLY ROTATED EARS. |
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Additional Information: |
SYMPTOMATIC LOCALIZATION-RELATED EPILEPSY. FOCAL ONSET SEIZURES CHARACTERIZED BY L FOCAL HEMI-CLONIC JERKING WITH PROGRESSION TO BILATERAL CONVULSIONS. HIGH PAIN TOLERANCE. GROSSLY NORMAL CRANIAL NERVES. |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
BLURRED VISION; CHRONIC OTITIS MEDIA; NEARSIGHTED |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed gross motor skills
|
| Walking Without Assistance: |
Achieved and maintained |
| Additional Information: |
WALKING STABLE WITH AFOS; SOME SPEECH REGRESSION; NOT TOILET TRAINED. |
| Gastrointestinal Symptoms |
| |
Hepatosplenomegaly
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
CONTROLLED RAD |
| Cognitive and Behavioral Symptoms |
| |
Behavioral problems
Autism spectrum disorder
Aggression
|
| Additional Information: |
NONVERBAL; AGGRESSION OCCURS AHEAD OF SEIZURES |
| Additional Information |
| Uncategorized Symptoms: |
HYPER AND HYPO PIGMENTED MACULES ON SKIN FOLLOWING THE BLASCHKO LINES ON TRUNK AND EXTREMITIES, SKIN PIGMENTARY MOSAICISM |
| Testing Performed |
| Neurological Testing: |
MRI OF BRAIN SHOWED SLIGHT ASYMMETRIC PERFUSION AT VERTEX, NO EVIDENCE OF SEIZURE FOCUS. EEG RESULT RIGHT PARIETAL (P4) EPILEPTIFORM DISCHARGES; FREQUENT MULTIFOCAL SPIKE WAVES AT LEFT CENTROPARIETAL, RIGHT CENTROTEMPORAL, AND LEFT OCCIPITAL AREAS; POSTERIOR DOMINANT RHYTHM NOT SUSTAINED. SLEEP STUDY SHOWED CHRONIC INSOMNIA, MILD SNORING, AND SLEEP APNEA. |
| Musculoskeletal and Developmental Testing: |
X-RAY SHOWED ASYMMETRIC CLOSURE OF LEFT LAMBDOID SUTURE W/ RIGHT LATERAL PARIETAL BOSSING; BROAD LONG BONE DIAPHYSIS, WIDENED APPEARANCE OF METACARPALS, BROADENED RIBS, SQUARED VERTEBRAL BODIES, AND SHORT CERVICAL SPINE PEDICLES. |
| Metabolic, Hematologic, and Endocrinologic Testing: |
ABDOMINAL ULTRASOUND SHOWED LIVER PARENCHYMAL DISEASE AND CHOLELITHIASIS W/O ACUTE CHOLECYSTITIS. |
| Uncategorized Testing: |
NORMAL CHROMOSOMAL MICROARRAY |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Surgeries |
BAER; BILATERAL MYRINGOTOMY AND TYMPANOSTOMY WITH VENTILATION TUBE; TONSILLECTOMY AND ADENOIDECTOMY; DECIDUOUS TEETH REMOVED MORE THAN ONCE. |
| Medications |
| |
LAMICTAL AND TOPAMAX 100MG; ALBUTEROL 90 MCG; CHOLECALCIFEROL 10MCG/ML; DIASTAT ACUDIAL 20MG; FLUTICASONE 50MCG; LAMOTRIGINE 100 MG |
| Family History |
| |
OLDER BROTHER HAD A HISTORY OF SPEECH DELAYS. MGM HAS HBP AND DIABETES. PGF DIED AT 87 YEARS OLD FROM ALZHEIMERS AND DIABETES. |
| Remarks |
See "Phenotypic Data Tab". |