| 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
Notes: DE NOVO MUTATION |
| 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 |
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| Birth History Information |
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| Dysmorphic Features |
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| Additional Information: |
SHORT STATURE, EPIDERMOID CYSTO OF THE TONGUE, SKIN LAXITY, EXHIBITS CRANIOFACIAL FEATURES OF DISORDER |
| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| 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 |
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| Additional Information: |
ANTERIOR ANUS |
| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| 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 |
See "Phenotypic Data" tab. |