| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
10 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: |
CLINICAL EXOME SEQUENCE ANALYSIS IDENTIFIED A LIKELY PATHOGENIC AUTOSOMAL DOMINANT DE NOVO VARIANT IN THE SNRPN GENE (NM_003097.4): C.73C>T (P.ARG25TER) IN EXON 5; CHR:POSITION 15:25220574; READS WERE ALIGNED AND ASSEMBLED TO REFERENCE SEQUENCES BASED ON NCBI REFSEQ TRANSCRIPTS AND HUMAN GENOME BUILD GRCH37/UCSC HG19 |
| Zygosity: |
Other
Notes: MOSAIC, C.73C>T PRESENT IN 10.38% OF 106 SEQUENCING READS |
| Other variants: |
NO PATHOGENIC MTDNA VARIANTS WERE IDENTIFIED; CNV ANALYSIS WAS PERFORMED - THERE IS NO CLINICALLY RELEVANT DELETION OR DUPLICATION OF 3 OR MORE EXONS IN THE DATA FOR THIS PROBAND |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
DIAGNOSED AT 10 YEARS OF AGE BY A GENETICIST |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Caesarian section
|
| Additional Information: |
C-SECTION, LOW TRANSVERSE; APGARS - ONE: 8, TEN: 9 |
| Dysmorphic Features |
| |
|
| Additional Information: |
MICRO AND RETROGNATHIA |
| Neurological Symptoms |
| |
Hypotonia
Sleep abnormalities
|
| Additional Information: |
SKIN PICKING; LOW TONE |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Abnormal weight for age
|
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
FOOD PERSEVERATIONS |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
Sleep disturbances
Attention deficit hyperactivity disorder
|
| Additional Information |
| Testing Performed |
| Uncategorized Testing: |
BASED ON CDC (GIRLS 2-20 YEARS): BMI 94%, WEIGHT 91%, HEIGHT/STATURE 59% |
| Treatments and Assistive Devices |
| |
|
| Medications |
| |
SOMATROPIN (NUTROPIN) |
| Family History |
| |
BASED ON VARIANT SEGREGATION ANALYSIS BY WHOLE EXOME SEQUENCING (WES) RESULTS, THIS PROBAND'S PARENTS (NOT IN REPOSITORY) DO NOT HARBOR THE P.R25X VARIANT IN THE SNRPN GENE. |