| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
17 MO |
| Sex |
Male |
| Age of Onset(If not a control) |
2 MO |
| Age at Diagnosis(If not a control) |
12 MO |
| Racial Category |
White |
| Country |
POLAND |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING REVEALED PATERNALLY INHERITED VARIANT IN MOCOS , C.362C>T (P.THR121MET) |
| Zygosity: |
Heterozygous |
| Other variants: |
WHOLE EXOME SEQUENCING REVEALED ADDITIONAL MATERNALLY INHERITED VARIANT IN MOCOS, C.1088_1089DEL P.(LEU363PROFSTER16). BOTH MOCOS VARIANTS ARE IN TRANS CONFIGURATION AND THE PROBAND IS A COMPOUND HETEROZYGOTE. THE PROBAND WAS ALSO ANALYZED FOR ALL DE NOVO VARIANTS IN THE PARENT; ACCORDING TO THE AVAILABLE KNOWLEDGE, THESE ARE VARIANTS OF UNKNOWN SIGNIFICANCE: OR10R2, C.10G>C P.(VAL4LEU), HETEROZYGOUS; CORO1B, C.756+274C>G, P.?, HETEROZYGOUS; SLC26A9, C.1496+96 C>G, P.?, HETEROZYGOUS; RABL6, C.629 C>T, P.(ALA210VAL), HETEROZYGOUS; CDK11B, C.495-398C>T, P.?, HETEROZYGOUS. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 MONTHS |
| Age at Diagnosis: |
12-14 MONTHS |
| In Utero History Information |
| |
|
| Additional Information: |
FETAL HYPOTROPHY; PREECLAMPSIA; MATERNAL HYPERTENSION AND HYPOTHYROIDISM |
| Birth History Information |
| |
Low birth weight
Caesarian section
|
| Additional Information: |
THERMOREGULATION ISSUES AND CLINICAL INSTABILITY DURING FIRST DAYS OF LIFE. DIAGNOSED WITH GRADE II INTRAVENTRICULAR HEMORRHAGE; APNEA; FEEDING DIFFICULTIES; POSITIONAL ASYMMETRY, PAROXYSMAL TORTICOLLIS |
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
SLEEP DIFFICULTIES. |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
DIFFICULTY LIFTING HEAD, ALTERS HEAD POSITIONING ASYMMETRY EVERY TWO WEEKS, HEAD DROPPING RESEMBLING TORTICOLLIS, THESE SYMPTOMS BECAME LESS FREQUENT AFTER INTRODUCING A LOW PURINE DIET, BODY STRAINING. |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Additional Information: |
NO RECOGNITION OF FAMILIAR PEOPLE, UNABLE TO WALK INDEPENDENTLY. IMPROVED SLEEP AND COMMUNICATION WITH ANTIBIOTICS BUT PRESENCE OF RED DISCOLORATION IN DIAPERS |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
CHRONIC GASTROINTESTINAL ISSUES, PAINFUL GAS. VERY HIGH FECAL CALPROTECTIN LEVELS, BUT NO CONFIRMED FOOD ALLERGIES. IMPROVED SLEEP AND COMMUNICATION WITH ANTIBIOTICS BUT PRESENCE OF RED DISCOLORATION IN DIAPERS |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Attention deficit hyperactivity disorder
|
| Additional Information: |
STRONG FRUSTRATION RESPONSES AND SELF-INJURIOUS BEHAVIORS, VOMITING, IMPAIRED RESPONSIVENESS AND ABSENT GAZE DURING HEAD DROPPING EPISODES. HYPERACTIVITY. |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI NORMAL |
| Respiratory and Cardiovascular Testing: |
EEG NORMAL |
| Metabolic, Hematologic, and Endocrinologic Testing: |
CHRONIC ANEMIA; REDUCED URIC ACID IN URINE; ELEVANTED XANTHINE, HYPOXANTHINE, AND ELEVATED XANTHOSINE; ELEVATED INOSINE; SLIGHTLY ELEVATED THYMINE VIA LC-MS/MS TESTING; ELEVATED LACTIC ACID AND PYRUVIC ACID LEVELS; BORDERLINE METHYLMALONIC ACID AND ETHYLMALONIC ACID LEVELS ON GCMS. |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Additional Testing: |
EARLY SUPPORT INTERVENTION (WWR PROGRAM) |
| Medications |
| |
IRON, VITAMIN B2, UBIQUINOL (COENZYME Q10), LOW PURINE AND FRUCTOSE DIET |
| Family History |
| Remarks |
See "Phenotypic Data tab". Fibro is GM29923. Unaffected mom is GM29924 (LCL) and GM29926 (Fibro). Unaffected dad is GM29927 (LCL) and GM29929 (Fibro). Unaffected brother is GM29930 (LCL) and GM29932 (Fibro). |