| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
24 YR |
| Sex |
Male |
| Racial Category |
Asian |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
GENETIC TESTING REVEALED A PATHOGENIC MUTATION IN THE MSH2 GENE, C.2437DELA (P.M813CFS*5), EXON 14, RESULTS FROM A DELETION OF ONE NUCLEOTIDE AT NUCLEOTIDE POSITION 2437 CAUSING A TRANSLATIONAL FRAMESHIFT WITH A PREDICTED ALTERNATE STOP CODON. |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| 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 |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
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FATHER: RIGHT SIDED COLON CANCER AT 46 YEARS OLD, REPORTEDLY HAS MSH2 ASSOCIATED LYNCH SYNDROME.
BROTHER: COLON POLYPS AT 23 YEARS OLD, UNKNOWN GENETIC STATUS. |
| Remarks |
Unaffected, tested due to family history of Lynch syndrome. |