| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
37 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
16 YR |
| Age at Diagnosis(If not a control) |
16 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: |
TARGETED SEQUENCING OF A HEREDITARY MYELOID MALIGNANCY AND INHERITED BONE MARROW FAILURE GENE PANEL REVEALED A LIKELY PATHOGENIC HETEROZYGOUS MUTATION (C.2957G>A; P.ARG986HIS) IN EXON 6 OF THE SAMD9L GENE (NM_001303497.1) |
| Zygosity: |
Heterozygous
Notes: DE NOVO MUTATION |
| Other variants: |
TARGETED SEQUENCING OF A HEREDITARY MYELOID MALIGNANCY AND INHERITED BONE MARROW FAILURE GENE PANEL REVEALED HETEROZYGOUS VARIANTS OF UNKNOWN SIGNIFICANCE IN EXON 30 OF THE FANCA GENE (C.2968G>A; P.ASP990ASN) AND EXON 9 OF THE FANCE GENE (C.1424A>G; P.LYS475ARG). |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
16 YEARS (AML - HEMATOLOGIC SYMPTOMS); 28 YEARS (NEUROLOGIC SYMPTOMS) |
| Age at Diagnosis: |
16 (AML) |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
| Neuropathy: |
Peripheral |
| |
Ataxia
Seizures
Unstable gait
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| Additional Information: |
NYSTAGMUS; CLONUS; HYPER REFLEXES IN LOWER LIMBS; ABNORMAL GAIT AND LOSS OF BALANCE; MRI REVEALED HYPERINTENSE FLAIRS, ATROPHY OF THE PROPRIOCEPTORS, SHRINKAGE OF BRAIN; EMGS SHOW DEMYELINATION; SPINAL TAP SHOWS 7 LYMPHOCYTES; GRAND MAL SEIZURE; BORDERLINE DIAGNOSES OF CHRONIC INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY (CIDP), AUTOIMMUNE ENCEPHALITIS, AND SMALL FIBER NEUROPATHY |
| Optical and Audiological Symptoms |
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Nystagmus
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| Musculoskeletal Symptoms |
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| Additional Information: |
MUSCLE WEAKNESS |
| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Additional Information: |
APPEARANCE OF SIGNS OF PRE-DIABETES; LIVER STEATOSIS |
| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Additional Information: |
GROUND GLASS OPACITIES FOUND IN LUNGS |
| Cognitive and Behavioral Symptoms |
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| Additional Information: |
BRAIN FOG; FATIGUE BORDERING NARCOLEPSY; FOOT DROP; COGNITIVE LAPSES; CONFUSION; DEPERSONALIZATIONS |
| Additional Information |
| Uncategorized Symptoms: |
DIAGNOSES WITH ACUTE MYELOID LEUKEMIA (AML) |
| Testing Performed |
| Neurological Testing: |
MRI |
| Musculoskeletal and Developmental Testing: |
EMG; SPINAL TAP |
| Uncategorized Testing: |
ERYTHROCYTE SEDIMENTATION RATE (ESR) HAS BEEN CHRONICALLY HIGH |
| Treatments and Assistive Devices |
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| Surgeries |
BONE MARROW TRANSPLANT - LEAD TO DEVELOPMENT OF CHRONIC GRAFT VS. HOST DISEASE (CGVHD) OF THE SKIN |
| Additional Testing: |
BRACES FOR VARIOUS JOINTS |
| Medications |
| |
PENTOSTATIN; RAPAMYCIN; BARICITBIN; ADDERALL; SELEGLINE; EXELON; OLMESARTAN |
| Family History |
| |
FAMILY HISTORY OF BLOOD CANCERS ON FATHER'S SIDE; MOTHER HAS A HETEROZYGOUS VOUS IN FANCM GENE (C.2267G>A; P.ARG756HIS) |
| Remarks |
Clinically affected; see "Phenotypic Data" tab. |