| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
8 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: |
EXOME SEQUENCING REVEALED A DE NOVO AUTOSOMAL DOMINANT MUTATION IN THE CHAMP1 GENE: C.1192C>T(P.R398*) |
| Zygosity: |
Heterozygous |
| Other variants: |
HOMOZYGOUS FOR C ALLELE OF C677T POLYMORPHISM IN THE MTHFR GENE (NORMAL VARIANT); HOMOZYGOUS FOR THE MET ALLELE OF VAL158MET (MET/MET) IN THE COMT GENE (REDUCED ACTIVITY); HETEROZYGOUS FOR -1291G>C (C/G) IN THE ADRA2A GENE (TYPICAL RESPONSE); ULTRARAPID METABOLIZER CYP2D6 *2A/*2A (INCREASED ENZYME ACTIVITY); HETEROZYGOUS FOR THE SHORT/LONG (L/S) PROMOTER POLYMORPHISM OF SLC6A4; HLA-B*1502 OR CLOSELY RELATED *15 IS NOT PRESENT; HOMOZYGOUS FOR G ALLELE (G/G) OF -1438G>A OF HTR2A GENE; HOMOZYGOUS FOR A ALLELE (A/A) OF RS1061235 A>T POLYMORPHISM OF HLA-A*3101; CYP1A2 *1/*1; CYP2B6 *1/*1 (NORMAL ALLELE ENZYME ACTIVITY); CYP2C19 *1/*1 (NORMAL ENZYME ACTIVITY); CYP2C9 *1/*1 (NORMAL ENZYME ACTIVITY); CYP3A4 *1/*1 (NORMAL ENZYME ACTIVITY); CYP2D6 *2A/*2A (INCREASED ENZYME ACTIVITY); UGT1A4 *1/*3 (*3 INCREASED ENZYME ACTIVITY); UGT2B15 *2/*2 (REDUCED ENZYME ACTIVITY) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
8 YEARS; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
| |
|
| Additional Information: |
ULTRASOUND SHOWED HYDRONEPHROSIS |
| Birth History Information |
| |
|
| Additional Information: |
SPONTANEOUS VAGINAL BIRTH, BORN AT 42 WEEKS GESTATION, PHIMOSIS |
| Dysmorphic Features |
| |
Cleft palate
|
| Additional Information: |
LOW HAIRLINE, PALE SKIN, LOW SET EARS, WIDE SET EYES, EYE FOLDS, FLAT NOSE BRIDGE, SUBMUCOSAL CLEFT, PSEUDO-STRABISMUS |
| Neurological Symptoms |
| |
Seizures
Sleep abnormalities
|
| Additional Information: |
LOW TONE, DECREASED PAIN |
| Optical and Audiological Symptoms |
| |
Defective hearing
|
| Additional Information: |
HEARING LOSS, COLOBOMA, ASTIMATISM, HYPEROPIA |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
SHORT STATURE, HYPOPLASTIC JOINTS, NO HIP SOCKET, CONGENITAL HIP DISLOCATION, HEMIVERTEBRAE |
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
SPEECH ATAXIA |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
FEEDING DIFFICULTY - OPENING MOUTH |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Anxiety
Mood disorder
Autism spectrum disorder
Sleep disturbances
Attention deficit hyperactivity disorder
|
| Additional Information: |
OCD, REPETITIVE STIMULATION, FRIENDLY, DECREASED PAIN, SELF INJURIOUS, SCREAMING BEHAVIOR |
| Additional Information |
| Uncategorized Symptoms: |
ECZEMA, HIGH BMI |
| Testing Performed |
| Neurological Testing: |
ABNORMAL EEG SHOWED SLOWED FRONTAL WAVES |
| Cognitive and Behavioral Testing: |
PSYCHOLOGICAL EVALUATION DIAGNOSED PDD-NOS, AND LANGUAGE, MOTOR COORDINATION AND INTELLECTUAL DISORDERS |
| Uncategorized Testing: |
SURGERIES: TYMPANOMASTIODECTOMY, EAR TUBES, LACRIMAL DUCT PROBE, CIRCUMCISION WITH CHORDEE REPAIR, SPINE FUSION, ADENOIDECTOMY |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Service animal
Hearing aid
Communication or learning devices
|
| Additional Testing: |
MANAGEMENT: GLASSES, SMO ORTHOTICS, HORSEBACK THERAPY, MUSIC THERAPY, CRANIOSACRAL THERAPY, CHIROPRACTIC |
| Medications |
| |
SEROQUEL XR, CLONIDINE XR, OXCARBAZIPINE, AMITRIPTYLINE, N-ACETYLCYSTEINE |
| Family History |
| |
THE CHAMP1 GENE MUTATION WAS NOT FOUND IN EITHER PARENT BY COSEGREGATION ANALYSIS |
| Remarks |
See Phenotypic Data tab; unaffected mother is GM27642 (lymph). |