| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
18 MO |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
1 YR |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
CLINICAL EXOME SEQUENCE ANALYSIS REVEALED THAT THIS INDIVIDUAL IS HETEROZYGOUS FOR TWO AUTOSOMAL RECESSIVE VARIANTS OF UNKNOWN SIGNIFICANCE IN THE ADAMTSL2 GENE (NM_014694.3): C.182G>A (P.R61H) IN EXON 3 AND C.493G>A (P.A165T) IN EXON 6 |
| Zygosity: |
Heterozygous |
| Other variants: |
NEXT GENERATION SEQUENCING IDENTIFIED THE FOLLOWING VARIANTS: C.3746A>T (P.D1249V) IN THE DYNC2H1 GENE AND C.1892C>T (P.A631V)IN THE GNPAT GENE |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
ONSET OF SYMPTOMS EARLY IN LIFE |
| Age at Diagnosis: |
DIAGNOSED AT 1 YEAR OF AGE BY A GENETICIST |
| In Utero History Information |
| |
|
| Additional Information: |
CYSTIC HYDROMA
SPONTANEOUS DECELERATION LASTING 6 MINUTE |
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Additional Information: |
DYSMORPHIC FACIAL FEATURES; BRACHYCEPHALY; MILD LID COLOBOMA; BULBOUS NOSE; POSTERIORLY ROTATED LOW-SET EARS; SMALL MOUTH MICROGNATHIA; SHORT NECK |
| Neurological Symptoms |
| |
|
| Additional Information: |
FAILED AUDITORY BRAINSTEM RESPONSE (ABR) TESTING, BUT REPEAT ABR UNDER GENERAL ANESTHESIA WAS NORMAL; POSITIVE FOR SNORING AND MOUTH BREATHING; LOUD BREATHING AT NIGHT, BUT NO APNEA; SNORES
LOWER LIMBS AND ARMS ARE TIGHT;
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
SHORT STATURE; SHORT-LIMBED; SHORT FINGERS; LOWER EXTREMITIES CANNOT BE FULLY EXTENDED BILATERALLY; ESPECIALLY TIGHT ACHILLES HEEL |
| Developmental Milestones |
| |
Delayed gross motor skills
Abnormal height for age
|
| Walking Without Assistance: |
Achieved and maintained |
| Additional Information: |
MILD GROSS MOTOR DELAYS; PULLING TO STAND AND WALKING WITH HELP ON |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
DYSPHAGIA; STAYED IN HOSPITAL FOR A MONTH FOR SEVERE FEEDING PROBLEMS; PROBLEMS COORDINATING SWALLOWING AND SUCKING; STRUGGLES EATING AND BREATHING |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Heart murmur
|
| Additional Information: |
MILD PULMONARY STENOSIS; HEART GALLOP AND MURMUR
PATENT FORAMEN OVALE |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
FACE TURNS BLUE WHEN CRYING |
| Additional Information |
| Uncategorized Symptoms: |
CYSTIC HYGROMA (SMALL NECK MASS) |
| Testing Performed |
| Musculoskeletal and Developmental Testing: |
X-RAYS SHOWED POSSIBLE SHORTENING OF UPPER LIMBS |
| Respiratory and Cardiovascular Testing: |
CARDIAC ECHO SHOWED SMALL STRUCTURAL CHANGE |
| Uncategorized Testing: |
AMNIOTIC FLUID CHROMOSOME TEST, DIGEORGE FISH, MICROARRAY AND WES FOR NOONAN SYNDROME-ASSOCIATED SYNDROMES WERE ALL NEGATIVE; NORMAL "SLICE FOR NOONAN SYNDROME ASSOCIATED SYNDROMES |
| Treatments and Assistive Devices |
| |
Physical therapy
|
| Medications |
| Family History |
| |
PARENTS ARE NOT RELATED; MOTHER CARRIES ONE OF THE ADAMTSL2 VARIANT COPIES; FATHER WAS NOT FOUND TO HAVE A DEFECT BUT IS POSSIBLY A MOSAIC GONADAL CARRIER; MOTHER HAS MILD BITEMPORAL NARROWING, SMALL MOUTH AND CHIN, POSTERIOR ROTATED EARS AND WIDE-SPACED NIPPLES SIMILAR TO THAT OF PROBAND |
| Remarks |
Affected. Mild symptoms. See "Phenotypic Data" Tab. Heterozygous mutations in the ADAMTSL2 gene: c.182G>A (p.R61H) and c.493G>A (p.A165T). Both are variants of Uncertain significance, and it is unknown whether they are on the same allele or on different alleles. |