| Demographic Data |
| Relation to Proband |
brother |
| Age at Sampling |
6 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
3 YR |
| Age at Diagnosis(If not a control) |
4 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: |
NEGATIVE FOR FBN1 GENE MUTATION FOUND IN SIBLINGS |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
3 1/2 YEARS |
| Age at Diagnosis: |
4 YEARS, DIAGNOSED BY NEUROLOGIST |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
| |
Seizures
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| Optical and Audiological Symptoms |
| |
Defective hearing
|
| Additional Information: |
IMPAIRED HEARING WHICH HAS BEEN IMPROVED WITH EAR TUBES |
| Musculoskeletal Symptoms |
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| Developmental Milestones |
| |
Delayed gross motor skills
|
| Additional Information: |
COULD EAT WITH A SPOON OR FORK AT 14-16 MO; BABBLED AT 4-6 MO; PUT TWO WORDS TOGETHER AT 18-20 MO; SMILED IN RESPONSE TO SMILE AT 1-2 MO; PLAYED GAMES LIKE PEEK-A-BOO OR PAT-A-CAKE AT 6-8 MO; POINTED TO INDICATE NEEDS AT 9-11 MO; HAS LOST DEVELOPMENTAL SKILLS OR REGRESSED; GROSS MOTOR DELAYS, LACK OF COORDINATION, IMPAIRED BALANCE, GENERALIZED WEAKNESS |
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
| |
Behavioral problems
Learning disability
|
| Additional Information: |
SPEECH DELAY |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
EEGS REPORTED NORMAL |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Hearing aid
|
| Additional Testing: |
ADDITIONAL THERAPY: IEP; HAD A MITO NPV DIET AND FEEDING, BUT CURRENTLY HAS A NORMAL REGULAR DIET; EAR TUBES X3 PLACED |
| Medications |
| |
CLONAZEPAM (FOR SEIZURES) |
| 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, 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 GM28020 (brother). Carrier parents are GM28022 (mother) and GM28023 (father). |