| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
11 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
7 YR |
| 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 REVEALED A NONSENSE VARIANT IN THE RUBCN GENE, C.1261C>T (P.R421X), EXON 10. THIS GENE IS LOCATED ON CHROMOSOME 3. THE RUBCN GENE WAS PREVIOUSLY REFERRED TO AS KIAA0226 |
| Zygosity: |
Homozygous |
| Other variants: |
WHOLE EXOME SEQUENCING REVEALED A DE NOVO MISSENSE VARIANT OF UNCERTAIN SIGNIFICANCE IN THE CPNE4 GENE, C.275 G>A (P.R92Q), EXON 3. MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 3. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
7 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Ataxia
Seizures
Unstable gait
|
| Additional Information: |
FOCAL EPILEPSY, SUBTLE HAND TREMORING WITH INTENTION, DYSDIADOCHOKINESIA. |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
GAIT ABNORMALITIES |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Additional Information: |
DELAYED GROWTH |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
HISTORY OF HEPATOMEGALY, VOMITING |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
HISTORY OF VSD |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
PSYCHOLOGICAL THERAPY, DYSFLUENCY |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
THE PITUITARY GLAND APPEARS QUALITATIVELY SMALL GLOBALLY BUT OTHERWISE NORMAL MRI OF THE BRAIN.
MR SPINE LUMBAR REVEALED POSSIBLE TRACT FROM THE GLUTEAL CLEFT TO THE COCCYX, OTHERWISE UNREMARKABLE MR.
|
| Respiratory and Cardiovascular Testing: |
PEDS EXTENDED EEG, ABNORMAL BECAUSE OF A FEW BRIEF BURST OF GENERALIZED EPILEPTIFORM DISCHARGES NOTED AT THE ONSET OF SLEEP WITHOUT CONCURRENT CLINICAL SEIZURES.
ECHOCARDIOGRAM REVEALED SMALL MID-MUSCULAR VENTRICULAR SEPTAL DEFECT AND SMALL ATRIAL LEVEL DEFECT (PATENT FORAMEN OVALE VERSUS SECUNDUM ATRIAL SEPTAL DEFECT). |
| Metabolic, Hematologic, and Endocrinologic Testing: |
SMALL PITUITARY GLAND, ON GH THERAPY |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| |
OXCARBAZEPINE 2X DAILY, SKYTROFA 1X WEEKLY BY INJECTION |
| Family History |
| Remarks |
See "Phenotypic Data" tab. Unaffected father is GM29901 and unaffected mother, who is a carrier of the gene is GM29902. |