| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
1 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING OF GENOMIC DNA REVEALED A COMPOUND HETEROZYGOUS MUTATION IN THE SBDS GENE (NM_016038.2). A VARIANT IN INTRON 2 OF THE SBDS GENE C.258+2T>C (IVS2+2T>C) IS PREDICTED TO CAUSE ABNORMAL GENE SPLICING CAUSING PREMATURE TRUNCATION. A VARIANT IN EXON 1 OF THE SBDS GENE C.41A>G (P.ASN14SER) CAUSES A CONSERVATIVE AMINO ACID SUBSTITUTION AND IS A LIKELY PATHOGENIC VARIANT. READS WERE ALIGNED TO HUMAN GENOME BUILD GRCH37/HG19. |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
WHOLE EXOME SEQUENCING OF GENOMIC DNA REVEALED COMPOUND HETEROZYGOUS VARIANTS OF UNKNOWN SIGNIFICANCE IN THE CUBN GENE (NM_001081.3) IN EXON 14 C.1719A>T (P.LEU573PHE) CAUSING A CONSERVATIVE AMINO ACID SUBSTITUTION AND EXON 58 C.9239G>A (P.GLU3077LYS) CAUSING A NON-CONSERVATIVE AMINO ACID SUBSTITUTION. READS WERE ALIGNED TO HUMAN GENOME BUILD GRCH37/HG19. DELETION/DUPLICATION ANALYSIS OF SBDS GENE VIA ACGH WAS NEGATIVE. SCREENING FOR MITOCHONDRIAL DNA POINT MUTATIONS AND DELETIONS WAS NEGATIVE. ANALYSIS OF ELANE GENE SHOWED NO MUTATION |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
Intrauterine growth restriction
|
| Additional Information: |
BIRTH INDUCTION AT 37 WEEKS IUGR DUE TO FETAL TACHYCARDIA |
| Birth History Information |
| |
Failure to thrive
|
| Additional Information: |
3 WEEK NICU STAY WITH DIFFICULTIES FEEDING, TRANSIENT HYPOGLYCEMIA, TEMPERATURE INSTABILITY; THROMBOCYTOPENIA AT BIRTH |
| Dysmorphic Features |
| |
|
| Additional Information: |
PROMINENT FOREHEAD; DEPRESSED NASAL BRIDGE; UPTURNED NOSE; SHORT PHILTRUM; BOWING OF UPPER LIP; STRABISMUS AT 2 MONTHS OF AGE, IS NOW RESOLVED; SHORT STATURE |
| Neurological Symptoms |
| |
Hypotonia
Sleep abnormalities
Unstable gait
|
| Additional Information: |
SLEEPING ISSUES- WAKES UP FREQUENTLY; UNSTEADY, WIDE-BASED AND WOBBLY GAIT; NOTABLE FOR MILD AXIAL > APPENDICULAR HYPOTONIA AND HEAD LAG WITH PRESERVED STRENGTH AND REFLEXES |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
BONE MARROW BIOPSIES REVEALED DYSMORPHIC LEFT SHIFTED MYELOPOIESIS, NUCLEAR:CYTOPLASMIC DYSSYNCHRONY WITH MYELOID NUCLEAR HYPOLOBATION AND HYPOGRANULATION, HYPOSEGMENTED NUCLEI, MILD ERYTHROID NUCLEAR IRREGULAR BORDERS, A FEW SMALL MEGAKARYOCYTES, HYPOCELLULAR MARROW WITH MATURING TRILINEAGE HEMATOPOIESIS; RIBS SLIGHTLY FLARED AT BASES; LIVER EDGE PALPATATED BELOW THE COSTAL MARGIN; THIN EXTREMITIES |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
WALKING AT 11 MONTHS OF AGE; TALKING AT 21 MONTHS OF AGE |
| Gastrointestinal Symptoms |
| |
Gastrointestinal reflux
Eating difficulties
Liver abnormalities
|
| Additional Information: |
STEATORRHEA; PANCREATIC EXOCRINE INSUFFICIENCY; SEVERE DIARRHEA REQUIRING BLOOD TRANSFUSION; OILY STOOL; PREVIOUSLY HAD CHOKING AND COUGHING DURING EATING AND DRINKING; POOR FEEDING DUE TO MILD SWALLOWING DIFFICULTY; ALLERGIES TO MILK PRODUCTS AND SOY |
| Genitourinary Symptoms |
| |
Kidney abnormalities
|
| Additional Information: |
MRI REVEALED MILD PELVIECTASIS IN RIGHT KIDNEY |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
URI RESOLVED WITHOUT TREATMENT; EXCESS PHLEGM IN THROAT |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
DIFFICULTY WITH COORDINATION |
| Additional Information |
| Uncategorized Symptoms: |
NEUTROPENIA; PRESENTED AT 2 MONTHS FOR FAILURE TO THRIVE WHICH REVEALED ANEMIA, REQUIRING A RBC TRANSFUSION; HYPOGAMMAGLOBULINEMIA; ELEVATED LIVER TRANSAMINASES; ELEVATED FERRITIN; ELEVATED AFP; MILDLY ELEVATED CREATINE KINASE; ELEVATED LACTATE; ELEVATED PYRUVATE; ELEVATED ALT; ELEVATED AST; ELEVATED PT-INR; ELEVATED PT; ELEVATED ALKALINE PHOSPHATASE; LOW WBC; HIGH HEMATOCRIT; LOW PLATELET; HIGH MPV; HIGH MCV; LOW MCHC; HIGH LYMPHOCYTE AND ABSOLUTE COUNT; LOW EOSINOPHIL AND ABSOLUTE COUNT; LOW ABSOLUTE BASOPHIL COUNT; LOW NEUTROPHIL/BAND; LOW IGG; LOW IGA; LOW IGM; HIGH CD3+/CD4+; LEUKOPENIA; NORMAL T, B, AND NK CELL NUMBERS; |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
LOW FECAL ELASTASE (<50); NEGATIVE SWEAT TEST |
| Uncategorized Testing: |
MRI SHOWS DIFFUSE FATTY REPLACEMENT OF PANCREAS; CYTOGENETICS AND FISH DID NOT REVEAL ANY CLONAL ABNORMALITIES |
| Treatments and Assistive Devices |
| |
Physical therapy
|
| Surgeries |
RBC TRANSFUSION |
| Additional Testing: |
PRIVATE FEEDING SPECIALIST |
| Medications |
| |
CREON; VITAMIN D3; VITAMIN E; URSODIOL; CYPROHEPTADINE; PROBIOTICS; ELECARE; RANITIDINE; ZANTAC; CYPROHEPTADINE; ERYPED; OMEPRAZOLE; TOCOPHEROL-DI-ALPHA |
| Family History |
| |
SISTER IS CARRIER FOR SBDS MUTATIONS AND WAS ALSO INDUCED AT 35 WEEKS FOR IUGR; MATERNAL GRANDMOTHER WITH CHRONIC PANCREATIC ISSUES; MOTHER WITH SCOLIOSIS, HYPOTHYROIDISM, IRON DEFICIENCY ANEMIA, RADIATION EXPOSURE (CHERNOBYL), PREVIOUS MISCARRIAGE; MATERNAL UNCLE WITH SEVERE EBV INFECTION WITH ASSOCIATED EBV PANCREATITIS |
| Remarks |
See "Phenotypic Data" tab |