| 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 |
| |
Abnormal fetal heart rate or rhythm
Fetal growth issues
Advanced maternal age
Decreased fetal movement
Intrauterine growth restriction
Oligohydramnios
Polyhydramnios
Assisted reproduction
|
| Additional Information: |
No Data |
| Birth History Information |
| |
Low birth weight
Jaundice
Difficulty breathing
Abnormal serum screen
Failure to thrive
Positive newborn screen
Caesarian section
Neural tube defect
Meconium ileus
Gastroischisis
Premature delivery
|
| Additional Information: |
No Data |
| Dysmorphic Features |
| |
Strabismus
Coarse facies
Short philtrum
Wide mouth
Cleft lip
Cleft palate
Cupped ears
Thick fleshy lips
Widely-spaced teeth
Tented cupid
Fetal pads
Simian crease
Abnormal hands or feet
Hypertelorism
Hypotelorism
Macrocephaly
Microcephaly
Holoprosencephaly
|
| Additional Information: |
No Data |
| Neurological Symptoms |
| Neuropathy: |
No Data |
| |
Lissencephaly
Cerebral palsy
Corpus callosum abnormalities
Ataxia
Chorea
Dystonia
Hypertonia
Hypotonia
Seizures
Structural brain anomaly
Hydrocephalus
Sleep abnormalities
Polymicrogyria
Unstable gait
Dandy walker
White matter issues
Basal ganglia damage
|
| Additional Information: |
No Data |
| Optical and Audiological Symptoms |
| |
Defective vision
Pupil abnormality
Cornea abnormality
Nystagmus
Optic disk palor
Optic nerve damage
Blindness
Deafness
Defective hearing
Blepharitis
Congenital exotropia
Alacrima
|
| Additional Information: |
IMPAIRED HEARING WHICH HAS BEEN IMPROVED WITH EAR TUBES |
| Musculoskeletal Symptoms |
| |
Acromelia
Rhizomelia
Club foot
Contractures
Scoliosis
Kyphosis
Skeletal dysplasia
Vertebral anomalies
Non-ambulatory
|
| Additional Information: |
No Data |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
Abnormal height for age
Abnormal weight for age
|
| Holding Head Up Without Assistance: |
No Data |
| Sitting Without Assistance: |
No Data |
| Walking Without Assistance: |
No Data |
| Running: |
No Data |
| 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 |
| |
Hepatosplenomegaly
Pyloric stenosis
Hirschsprung
Bloating
Constipation
Gastrointestinal reflux
Eating difficulties
Cholecystectomy
Liver abnormalities
Pancreatitis
Esophageal atresia
|
| Additional Information: |
No Data |
| Genitourinary Symptoms |
| |
Kidney abnormalities
Abnormalities of the ureter
Abnormalities of the urethra
Polycystic kidneys
Renal agenesis
Urethral obstruction
Hydronephrosis
Megacystis
Urinary tract infection
Ovarian cancer
Cryptorchidism
Ambiguous genitalia
|
| Additional Information: |
No Data |
| Respiratory and Cardiovascular Symptoms |
| |
Hypoplastic left heart
Hypoplastic right heart
Coarctation of aorta
Atrial septal defect
AV canal defect
Tetralogy of fallot
Truncus arteriosus
Ebstein anomaly
Heart murmur
Poor circulation
Breathing irregularities
Pneumothorax
Diaphragmatic hernia
Asthma
Pulmonary valve atresia
|
| Additional Information: |
No Data |
| Cognitive and Behavioral Symptoms |
| |
Happy personality
Anxiety
Mood disorder
Behavioral problems
Autism spectrum disorder
Sensory processing disorder
Aggression
Memory loss
Sleep disturbances
Learning disability
Attention deficit hyperactivity disorder
|
| Intellectual Disability: |
No Data |
| Additional Information: |
SPEECH DELAY |
| Additional Information |
| Uncategorized Symptoms: |
No Data |
| Testing Performed |
| Neurological Testing: |
EEGS REPORTED NORMAL |
| Optical and Audiological Testing: |
No Data |
| Musculoskeletal and Developmental Testing: |
No Data |
| Respiratory and Cardiovascular Testing: |
No Data |
| Cognitive and Behavioral Testing: |
No Data |
| Metabolic, Hematologic, and Endocrinologic Testing: |
No Data |
| Uncategorized Testing: |
No Data |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Service animal
Hearing aid
Communication or learning devices
music therapy
horseback therapy
craniosacral therapy
glasses
|
| Surgeries |
No Data |
| 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). |