| Demographic Data |
| Relation to Proband |
brother |
| Age at Sampling |
9 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
1 YR |
| Age at Diagnosis(If not a control) |
6 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 (P.L105X); 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)) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 YEAR |
| Age at Diagnosis: |
6 YEARS; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
| |
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| Birth History Information |
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| Dysmorphic Features |
| |
|
| Additional Information: |
MARFANOID FEATURES, ABNORMAL BIRTHMARKS; POSTURE: FLAT FEET BILATERALLY |
| Neurological Symptoms |
| |
|
| Additional Information: |
ABNORMAL OR AWKWARD GAIT, BALANCE ISSUES, LACK OF COORDINATION, FREQUENT FALLS, SNORING |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
LENS DISLOCATION, CATARACTS |
| Musculoskeletal Symptoms |
| |
Scoliosis
|
| Additional Information: |
JOINT FLEXIBILITY; MUSCLE WEAKNESS |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
|
| Additional Information: |
PROFOUND PHONOLOGICAL DISORDER, ARTICULATION DISORDER, APRAXIA OF SPEECH, MIXED RECEPTIVE/EXPRESSIVE LANGUAGE DISORDER; MINIMAL SPONTANEOUS SPEECH MARKED BY EXTREMELY LOW INTELLIGIBILITY, WALKED AT 18 MONTHS OF AGE; DID NOT BABBLE UNTIL PRESSURE EQUALIZATION TUBES WERE PLACED AFTER 12 MONTHS OF AGE, FIRST WORDS AROUND 3 YEARS OF AGE; KNOWS SOME NUMBERS AND COUNTS TO FOUR; RECOGNIZES LETTERS, NUMBERS AND COLORS, THOUGH NOT AGE APPROPRIATE; BEFORE PHYSICAL THERAPY, COULD NOT JUMP, SKIP, OR BALANCE ON 1 LEG; AFTER PHYSICAL THERAPY, CAN JUMP AND DO SINGLE LEG STANCE ACTIVITIES SUCH AS SKIPPING AND GALLOPING; UNABLE TO REPORT SYMPTOMS OF PAIN, OR CAUSE OF PAIN; LEFT HANDED; BED MOBILITY INDEPENDENT; AMBULATION INDEPENDENT |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
DIARRHEA |
| Genitourinary Symptoms |
| |
|
| Additional Information: |
DAYTIME INCONTINENCE |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
RELATED TO MARFAN SYNDROME: DILATED AORTIC ROOT; SIGNIFICANT INCREASE IN AORTIC SINUSES OVER 1 YEAR; ALARMING RATE OF PROGRESSION OF DILATION OF THE SINUSES OF VALSALVA; ECTOPIA LENTIS STATUS POST SURGICAL REPAIR AT AGE 3 |
| Cognitive and Behavioral Symptoms |
| |
|
| Intellectual Disability: |
Moderate |
| Additional Information: |
INTELLECTUAL DISABILITY, DAY WETTING |
| Additional Information |
| Uncategorized Symptoms: |
WEIGHT 12TH %ILE, AND HEIGHT 31%ILE BASED ON CDC BOYS 2-20 YEARS |
| Testing Performed |
| Musculoskeletal and Developmental Testing: |
IMPAIRED FUNCTIONAL MOBILITY, BALANCE, AND ENDURANCE |
| Respiratory and Cardiovascular Testing: |
ABNORMAL ECG - MILD DILATION OF THE AORTA AT THE LEVEL OF THE SINUSES OF VALSALVAL AND AORTIC ROOT |
| Cognitive and Behavioral Testing: |
ABNORMAL BRAIN MRI |
| Uncategorized Testing: |
CHROMOSOME 15Q DELETION |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
|
| Additional Testing: |
ADDITIONAL TREATMENTS AND ASSISTIVE DEVICES: IEP FOR SPEECH; GLASSES/CONTACTS |
| Medications |
| |
PROPANOLOL (TO LIMIT PROGRESSION OF AORTIC ENLARGEMENT), MITOCHONDRIAL COCKTAIL (COQ10 (UBIQUINOL), RIBOFLAVIN, CREATINE MONOHYDRATE, ALPHA-LIPOIC ACID, FOLINIC ACID); ATENOLOL, LEUCOVORIN CALCIUM, MULTI-VITAMIN, FIBER GUMMY, PROBIOTIC |
| 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; SISTER HAS LEIGH SYNDROME, GROSS/FINE MOTOR DELAYS, 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: GM28019 (sister) and GM28021 (brother). Carrier parents are GM28022 (mother) and GM28023 (father). |