| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
18 MO |
| Age at Diagnosis(If not a control) |
2 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 REVEALED A LIKELY PATHOGENIC DE NOVO VARIANT IN EXON 1 OF THE MAFB GENE (NM_005461.4), CHR:POSITION 20:39317279, C.212C>G (P.P71R). READS WERE ALIGNED TO HUMAN GENOME BUILD GRCH37/UCSC HG19 |
| Zygosity: |
Heterozygous |
| Other variants: |
COPY NUMBER VARIANT (CNV) ANALYSIS WAS PERFORMED; THERE WAS NO INDICATION OF A 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: |
18 MONTHS |
| Age at Diagnosis: |
2 YEARS, 10 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Additional Information: |
SHORT STATURE, EPIDERMOID CYSTO OF THE TONGUE, SKIN LAXITY, EXHIBITS CRANIOFACIAL FEATURES OF DISORDER |
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
SKELETAL ABNORMALITIES, SMALL TALUS BONE, C5-C6 SEGMENTATION ANOMALY, HYPOPLASTIC THUMBS, INFLAMMED SWOLLEN ANKLES |
| Developmental Milestones |
| |
Delayed gross motor skills
|
| Additional Information: |
DID NOT WALK UNTIL 2 YEARS OF AGE; CANNOT CLIMB STEPS, HOP, JUMP OR PUT ANY PRESSURE ON WRISTS |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
ANTERIOR ANUS |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Musculoskeletal and Developmental Testing: |
X-RAYS SHOW IRREULAR-SHAPED AND MISSING CARPAL AND TARSAL BONE |
| Treatments and Assistive Devices |
| |
Orthotics
|
| Additional Testing: |
ADDITIONAL ASSISTIVE DEVICES: BRACES SURGERIES: EAR TUBE REMOVAL, ADENOID REMOVAL, CYST REMOVAL UNDER TONGUE |
| Medications |
| |
ANTI-INFLAMMATORY MEDS, METHOTREXATE, ACTEMRA, LISINOPRIL (QBRELIS) |
| Family History |
| |
THIS PROBAND'S PARENTS (NOT IN THE REPOSITORY) DO NOT HARBOR THE P.P71R VARIANT IN THE MAFB GENE. |
| Remarks |
Reprogrammed from parental line GM28026 (PBMC). The Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |