| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
16 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
12 YR |
| 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 A DE NOVO HETEROZYGOUS MUTATION IN THE CHAMP1 GENE: C.1969C>T (P.GLN657*); HG19 (NCBI BUILD 37); RESULTS WERE CONFIRMED BY SANGER SEQUENCING |
| Zygosity: |
Heterozygous |
| Other variants: |
VOUS: UBE3A C.2558A>G (P.X853X), MLL2 C.1938C>G (P.P646P, NO PREDICTED AMINO ACID CHANGE); INHERITED HETEROZYGOUS VARIANTS: CHD7 C.3522+20T>G, C.2012C>T (P.P671L), C.7570C>T (P.L2524L), C.2499-23A>G (ALL PATERNAL); CACNA1C C.5241C>T (P.A1747A, PATERNAL); EHMT1 C.1068C>T (P.T356T) (PATERNAL, RS113595214); FMR1 C.483T>C (P.Y161Y, MATERNAL); MED12 C.397-12A>T (PATERNAL); NHS C.1780G>A (P.V594I, PATERNAL); NSD1 C.5510-10G>A (PATERNAL); PTCHD1 C.1013-24T>C (PATERNAL); NORMAL METHYLATION ON SNPRN GENE FOR PRADER-WILL/ANGELMAN SYNDROME - METHYLATED MATERNAL ALLELE, UNMETHYLATED PATERNAL ALLELE) VIA MS-PCR; NORMAL: MECP2 (MLPA ANALYSIS), PMM2 (PCR), AND THE FOLLOWING SEQUENCED GENES: XNP, ALG6, AND CDKL5/STK9 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
12 YEARS; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
| |
|
| Additional Information: |
MOTHER HAD MILD PREGNANCY INDUCED HYPERTENSION (PIH) |
| Birth History Information |
| |
|
| Additional Information: |
BORN BY VAGINAL DELIVERY AT 41 WEEKS GESTATION; APGAR SCORES OF 8 AT ONE MINUTE AND 9 AT FIVE MINUTES; WAS FLOPPY, DRIED, STIMULATED, AND PALE AT BIRTH; CYANOTIC IN ROOM AIR; FEATURES OF DOWN'S SYNDROME; WIDESPREAD FIRST TOE AND SIMIAN CREASE ON THE LEFT |
| Dysmorphic Features |
| |
Microcephaly
|
| Additional Information: |
SHORT STATURE |
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Additional Information: |
HISTORY OF SEIZURES (NONE CURRENTLY) |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
SEVERE SPEECH DELAY, INTELLECTUAL DISABILITY |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
CAPILLARY ELECTROPHORESIS REVEALED NORMAL PATTERNS OF TRANSFERRIN ISOFORMS |
| Uncategorized Testing: |
RANDOM PATTERN OF X-INACTIVATION, RATIO OF 59:41 (RATIOS OF LESS THAN 80:20 ARE RANDOM); AFFY 6.0 MICROARRAY REVEALED LOSS/GAIN OF MULTIPLE REGIONS IN THE DNA |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Communication or learning devices
|
| Medications |
| Family History |
| |
NO FAMILY HISTORY OF THE CHAMP1 MUTATION; PARENTAL STUDIES INDICATE THAT THE ALTERATION IS DE NOVO |
| Remarks |
See Phenotypic Data tab. |