| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Male |
| 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: |
WHOLE GENOME SEQUENCING REVEALED THAT SUBJECT HAS A HEMIZYGOUS X-LINKED DELETION IN SLC6A8: C.321_323DELCTT (P.PHE107DEL) |
| Zygosity: |
Other
Notes: HEMIZYGOUS FOR X-LINKED DISORDER |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
BIRTH: DIAGNOSED BY A GENETICIST |
| In Utero History Information |
| |
|
| Additional Information: |
GESTATIONAL AGE: FULL TERM; INDUCED VAGINAL DELIVERY; BIRTH WEIGHT: 8 LB 11 OZ; COMPLICATIONS IN THE FIRST MONTH INCLUDED HYPOGLYCEMIA; INITIAL BLOOD SUGAR WAS 34 BUT IT RESOLVED WHEN GIVEN FORMULA |
| Birth History Information |
| |
Failure to thrive
Positive newborn screen
|
| Additional Information: |
ON FIRST DAY AFTER BIRTH, BIOCHEMICAL TESTING REVEALED THAT SUBJECT HAD A MILD ELEVATION OF CREATINE: PLASMA CREATINE 88.9 UMOL/L (NORMAL RANGE: 2-109) AND URINE CREATINE 1225 MMOL/MOL (NORMAL RANGE: 3.8-947); AT 2.5 MONTHS, THE URINE WAS MARKEDLY ELEVATED TO 3338 MMOL/MOL; HEIGHT: 10TH %ILE; WEIGHT: 45 %ILE, BMI 15.18 KG/M2, HC 42 CM; AT 4 MONTHS: BMI 15.18 KG/M2; LIGHT OR DARK BIRTH MARKS; BIRTH MARK (PORT WINE) ON LEFT THIGH; RED BIRTHMARK ON THE BACK OF THE NECK - SIZE AND TEXTURE ARE STABLE; POOR WEIGHT GAIN; SIGNIFICANT PROBLEMS WITH CONSTIPATION AND VOMITING IN THE FIRST FEW MONTHS; INTESTINAL MUSCLES DID NOT SYNCHRONIZE PROPERLY, CAUSING CONSTIPATION |
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
Seizures
Sleep abnormalities
|
| Additional Information: |
HAD ONE GENERALIZED TONIC-CLONIC SEIZURE AND ANOTHER SEIZURE, BUT NONE SINCE TREATMENT WITH KEPPRA; SLEEP MYOCLONUS; ABNORMAL MOVEMENT; GAZE IS CONJUGATE, TONE IS SLIGHTLY LOW GENERALLY |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
HYPERFLEXIBLE |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
DEVELOPMENTAL MILESTONES AT 3 MONTHS OF AGE: GROSS MOTOR - ABLE TO HOLD HEAD UP, FINE - REACH FOR OBJECTS, LANGUAGE - COOING, SOCIAL - SMILES, REGARDS OBJECTS; WALKED AND ALMOST RUNNING AROUND 2 YEARS; AT 4 YEARS MAKES SOME SOUNDS SUCH AS DADA, MAMA, GAGA BUT IS VOCALIZING LITTLE; AT 5 YEARS: BASED ON CDC BOYS 2-20 YEARS DATA, 14%ILE WEIGHT, 8 %ILE HEIGHT/STATURE, BMI: 51%; APPEARS WELL-NOURISHED; SITS STABLY AND WALKS INDEPENDENTLY |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Additional Information: |
REFLUX AND VOMITING |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
SNORES AT NIGHT; LEFT VENTRICULAR NON-COMPACTION CARDIOMYOPATHY |
| Cognitive and Behavioral Symptoms |
| |
Anxiety
Autism spectrum disorder
Sleep disturbances
|
| Additional Information: |
SNORING DURING SLEEP AT NIGHT, SO IS GIVEN NEURONTIN; SENSORY ISSUES; DRAGS HEAD ALONG THE FLOOR; BANGS HEAD ON THE WALL OR WINDOW; SEPARATION ANXIETY; STRANGER ANXIETY; LIKES TO LICK THINGS; POOR EYE CONTACT; WITHDRAWN; SELF-STIMULATORY BEHAVIOR; SPINNING ON KNEES AND HAND FLAPPING; DOES NOT LIKE TO HAVE HAIR WASHED |
| Additional Information |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
AT 4-5 YEARS: PLASMA CREATINE 89.7 (NORMAL 3-114 UMOL/L), PLASMA GUANIDINOACETATE 1.21 (0.1-1.7 UMOL/L), PLASMA AMINO ACIDS: GLYCINE 251 (81-436), ARGININE 32.7 (12-133) |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
|
| Additional Testing: |
WEARS ANKLE BRACES; ADDITIONAL THERAPY: PSYCHOLOGICAL THERAPY; ABA THERAPY SURGERIES: COLONOSCOPY W/ BIOPSY; ESOPHAGOGASTODOUDENOSCOPY W/ BIOPSY; ESOPHAGOGASTODOUDENOSCOPY W/ REMOVAL FOREIGN BODY; GASTROSTOMY W/ FEEDING TUBE |
| Medications |
| |
MAGNESIUM HYDROXIDE, OMEPRAZOLE (PRILOSEC); (MILK OF MAGNESIA); SUPPLEMENTS (CAUSE SEVERE DIARHREA): L-ARGININE, FOR A SHORT TIME: CREATINE MONOHYDRATE, GLYCINE; KEPPRA, NEURONTIN; TYLENOL, ZYRTEC, DIASTAT ACUDIAL, BENADRYL ALLERGY, FLONASE, GLYCERIN SUPPOSITORY, IBRUPROFEN, PREVACID, REGLAN, BACTROBAN, MYCOSTATIN, MIRALAX, MELATONIN, PROAIR HFA, ZINC OXIDE 20% OINTMENT, ORALYTE, CYPROHEPTADINE |
| Family History |
| |
SUBJECT AND TWO OF HIS FULL BROTHERS ALSO HAVE THE SAME DIAGNOSIS AND VERY SIMILAR CLINICAL PRESENTATIONS OF SEIZURE AND GLOBAL DEVELOPMENTAL DELAY; AFFECTED BROTHER (GM28028) HAS SAME DIAGNOSIS AND X-LINKED HEMIZYGOUS GENE DELETION IN SLC6A8 (C.321_323DELCTT); MOTHER (GM28048) IS A CARRIER FOR X-LINKED CREATINE TRANSPORTER DEFICIENCY SYNDROME AND HAS THE SAME DELETION IN SLC6A8 GENE THAT WAS IDENTIFIED IN HER TWO SONS; MATERNAL UNCLE HAS INTELLECTUAL AND SPEECH DISABILITY, AUTISTIC FEATURES, NEEDS HELP WITH DAILY LIVING SKILLS, HAS CONSTIPATION, AND HAD SEIZURES AT A YOUNG AGE; MATERNAL GRANDMOTHER HAS TWO SISTERS WITH MENTAL ILLNESS; PATERNAL UNCLE HAS LEARNING DISABILITIES AND BEHAVIORAL PROBLEMS; ANOTHER COUSIN HAS SEVERE MENTAL RETARDATION; PATERNAL GRANDMOTHER HAS NEPHEW WITH HIRSCHSPRUNG DISEASE AND MISPLACED ORGANS CORRECTED BY SURGERY; NO CONSANGUINITY. |
| Remarks |
Clinically affected proband. See "Phenotypic Data" Tab. Affected mother is GM28048 (lymph); Clinically affected brothers are GM28028 (lymph) and GM28061 (lypmh). |