| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
15 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
1 YR |
| Age at Diagnosis(If not a control) |
12 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: |
POSITIVE FOR FAMILIAL SURF1 MUTATION; WHOLE EXOME SEQUENCING REVEALED COMPOUND HETEROZYGOUS AUTOSOMAL RECESSIVE MUTATIONS IN EXON 4 OF THE SURF1 GENE (NM_003172.2); A PATERNALLY INHERITED HETEROZYGOUS MUTATION, C.269T>C (P.L90P), AND A MATERNALLY INHERITED HETEROZYGOUS MUTATION, C.312_321DEL10INSAT; READS WERE ALIGNED TO HUMAN GENOME BUILD GRCH37/UCSC HG19 |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
HETEROZYGOUS LIKELY PATHOGENIC PATERNALLY INHERITED AUTOSOMAL DOMINANT MUTATION IN EXON 34 OF THE FBN1 GENE: C.4096G>A (P.E1366K OR P.GLU1366LYS (GAA>AAA)); GEL ELECTROPHORESIS OF SALIVA DNA PCR PRODUCTS REVEALED THESE PHARMACOGENETIC GENOTYPES - CYP2D6 *1/*1 (NORMAL EXTENSIVE METABOLIZER), CYP2C19 *1/*19 (NORMAL EXTENSIVE METABOLIZER), CYP3A4 *1/*1 (NORMAL EXTENSIVE METABOLIZER), CYP2B6 *1/*6 (INTERMEDIATE METABOLIZER), CYP1A2 -2467>DELT - T/DELT, -163C>A (NORMAL EXTENSIVE METABOLIZER), SLC6A4 (HETEROZYGOUS FOR L/S PROMOTER POLYMORPHISM; INTERMEDIATE RESPONSE); HTR2A (HETEROZYOGOUS FOR -1438G>A; INTERMEDIATE ACTIVITY) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 YEAR |
| Age at Diagnosis: |
12 YEARS; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
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| Birth History Information |
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| Additional Information: |
FULL TERM (AT LEAST 37 WEEKS); 8 LBS 4 OZ AT BIRTH |
| Dysmorphic Features |
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| Additional Information: |
HEAD IS ATRAUMATIC, NORMOCEPHALIC; HYPEREXTENSIBLE SKIN |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
ANOREXIA; IMPAIRED FUNCTIONAL MOBILITY, BALANCE, GAIT, AND ENDURANCE |
| Optical and Audiological Symptoms |
| |
Defective vision
Nystagmus
|
| Additional Information: |
HORIZONTAL NYSTAGMUS |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
PROXIMAL LIMB MUSCLE WEAKNESS; FINE TREMOR |
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
SPEECH IS 90% INTELLIGIBLE; RESPONSIVE SMILE AT 1-2 MO, SIT WITHOUT SUPPORT AT 6-7 MO, ROLL OVER ON TIME, WALK WELL AT 18 MO |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
ANOREXIA, PICKY EATER, MEAT IS CUT SMALL; DYSPHAGIA |
| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
| |
Anxiety
Behavioral problems
Aggression
|
| Intellectual Disability: |
Mild |
| Additional Information: |
ANXIOUS, OPPOSITIONAL, DEFIANT; EYE CONTACT IS FAIR; PRIOR DIAGNOSIS OF ADHD AT AGE 7 YEARS; MILD COGNITIVE IMPAIRMENT; TROUBLE CONCENTRATING; WEIGHT IS 6 %ILE AND HEIGHT IS 16 %ILE BASED ON CDC 2-20 |
| Additional Information |
| Uncategorized Symptoms: |
ALSO HAS MARFAN SYNDROME; 2021 ICD-10-CM DIAGNOSIS CODE E88.40: MITOCHONDRIAL METABOLISM DISORDER |
| Testing Performed |
| Cognitive and Behavioral Testing: |
NORMAL BRAIN MRI; IS NOT ON AN IEP (INDIVIDUALIZED EDUCATION PLAN); DOING WELL IN SCHOOL; GRADES ARE B'S AND C'S |
| Uncategorized Testing: |
PREVIOUS SURGERY: LENS REPLACEMENT |
| Treatments and Assistive Devices |
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|
| Additional Testing: |
DEVICES: WEARS GLASSES; PREVIOUS PT AND OT, BUT NONE CURRENTLY |
| Medications |
| |
LEUCOVORIN CALCIUM; MITCHONDRIAL COCKTAIL: COQ10, RIBOFLAVIN, CREATINE, ALPHA-LIPOIC ACID, FOLINIC ACID |
| Family History |
| |
FAMILY HISTORY IS SIGNIFICANT FOR DILATED AORTIC ROOT, LENS DISLOCATION, CLINICAL DIAGNOSIS OF MARFAN SYNDROME; NO CONSANGUINITY; MOTHER HAS ARTHRITIS, ANXIETY, DEPRESSION, OBESITY; FATHER HAS HIGH BLOOD PRESSURE AND MARFAN SYNDROME; A BROTHER HAS LEIGH SYNDROME, GLOBAL DEVELOPMENTAL DELAYS, TREMORS, INTELLECTUAL DISABILITY, AWKWARD GAIT; A SECOND BROTHER HAS SUSPECTED MARFAN SYNDROME; ANOTHER SISTER HAS SUSPECTED MARFAN SYNDROME; YOUNGEST BROTHER AND SISTER ARE HEALTHY; 4 MATERNAL UNCLES, 3 MATERNAL AUNTS, MATERNAL GRANDFATHER AND MATERNAL GRANDMOTHER ARE HEALTHY; 2 PATERNAL AUNTS AND 2 PATERNAL UNCLES HAVE MARFAN SYNDROME; PATERNAL UNCLE AND WIFE STRUGGLED WITH INFERTILITY AND THEIR ONLY CHILD HAS AN ABSENT CEREBELLUM; PATERNAL GRANDFATHER HAS MARFAN SYNDROME AND DIABETES MELLITUS; PATERNAL GRANDMOTHER IS IN GOOD HEALTH; PATERNAL GREAT UNCLE HAS ACUTE MYOCARDIAL INFARCTION AND MARFAN SYNDROME |
| Remarks |
See Phenotypic Data tab. Clinically affected; has two affected siblings in family 3515: GM28020 (brother) and GM28021 (brother). Carrier parents are GM28022 (mother) and GM28023 (father). |