| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
1 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
15 MO |
| 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: |
AUTOSOMAL RECESSIVE COCKAYNE SYNDROME (CS TYPE II); TRIO WHOLE EXOME SEQUENCING (WES) OF BUCCAL SWAB DNA REVEALED TWO PATHOGENIC HETEROZYGOUS VARIANTS IN TRANS IN THE ERCC8 GENE: PATERNALLY INHERITED C.37G>T (P.GLU13*), AND MATERNALLY INHERITED C.173+1G>A (SPLICE DONOR) |
| Zygosity: |
Compound Heterozygous
Notes: VARIANTS ARE IN TRANS |
| Other variants: |
CARRIER OF THE DUARTE2 VARIANT IN THE GALT GENE - NOT CAUSAL FOR SYMPTOMS |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| In Utero History Information |
| |
|
| Additional Information: |
MOTHER WITH GESTATIONAL DIABETES AND HYPERTENSION |
| Birth History Information |
| |
Low birth weight
Jaundice
Failure to thrive
|
| Additional Information: |
37 WEEKS GESTATION; LABOR INDUCED DUE TO SMALL SIZE, MATERNAL ELEVATED BLOOD PRESSURE, AND CONCERNING FETAL HEART RATE AND BREATHING; NO FETAL COMPLICATIONS DURING DELIVERY; 5LB 6OZ AT BIRTH; BORN TO G1P0 MOTHER WITH A SINUS INFECTION AND FEVER TREATED BY ANTIBIOTICS; BORDERLINE BLOOD SUGAR LEVELS AND JAUNDICE (TREATED BY PHOTOTHERAPY); EYES ROLLED DOWNWARDS AT BIRTH; MODERATE POSTNATAL GROWTH RETARDATION; POOR WEIGHT GAIN AS INFANT; GASTROESOPHAGEAL REFLUX DISEASE (GERD) |
| Dysmorphic Features |
| |
Microcephaly
|
| Additional Information: |
EYES SLANT DOWN (MINIMAL) |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
AREFLEXIA |
| Optical and Audiological Symptoms |
| |
Defective vision
Nystagmus
|
| Additional Information: |
ABNORMALITY OF THE EYE, JUVENILE CATARACT (BOTH EYES), POSTERIOR LENTICONUS, ABNORMAL EYE MORPHOLOGY AND PHYSIOLOGY; AT 2 MONTHS HAD BLOCKED TEAR DUCT AND HAD ISSUES TRACKING AND FOCUSING; AT 3 MONTHS THERE WAS NO RED REFLEX BILATERALLY AND HE HAD 4+ CATARACTS IN RIGHT LENS AND 3+ CATARACTS IN LEFT LENS |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
MUSCULAR HYPOTONIA; DECREASED MUSCLE MASS |
| 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
|
| Sitting Without Assistance: |
Achieved and maintained |
| Additional Information: |
GROWTH ABNORMALITY; MILD MOTOR DELAY; EXPRESSIVE LANGUAGE DELAY; SPEECH DIFFICULTY; UNDERSTANDS SPEECH; DOES NOT TALK; VERY GOOD UNDERSTANDING AND IS "SMART" - RESPONDS TO SUGGESTIONS AND COMMANDS |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
VERY SOCIAL, HAS A SOCIAL SMILE AND LAUGHS |
| Additional Information |
| Uncategorized Symptoms: |
ALLERGIC TO FLAGYL (METRONIDAZOLE) |
| Testing Performed |
| Optical and Audiological Testing: |
AT 12 MONTHS OF AGE, WAS TRACKING; HAD LESS NYSTAGMUS; AT 15 MONTHS, WAS SITTING INDEPENDENTLY |
| Musculoskeletal and Developmental Testing: |
WEIGHT: <1%ILE; HEIGHT: 2%ILE; HEAD CIRCUMFERENCE: <1%ILE; BMI: 13.8; AT 12 MONTHS, HAD IMPROVED HEAD CONTROL |
| Metabolic, Hematologic, and Endocrinologic Testing: |
ELEVATED HEPATIC TRANSAMINASE, LACTIC ACIDOSIS, HYPERALANINEMIA; ABNORMALITY OF CIRCULATING ENZYME LEVEL, ABNORMAL ENZYME/COENZYME ACTIVITY |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Additional Testing: |
VISION THERAPY; WEARS CONTACTS; EXTRACAPSULAR SURGERY OF CATARACTS |
| Medications |
| |
CYCLOPENTOLATE HCL, 1% SOLUTION: DUOCAL ORAL POWDER; VITAMIN D LIQUID; DOCUSATE SODIUM (COLACE) |
| Family History |
| |
PARENTS ARE CARRIERS OF MUTATIONS IN ERCC8; NO CONSANGUINITY; FATHER HAS PATERNAL ANCESTRY FROM ITALY/GREECE AND SEPHARDIC JEWISH HERITAGE AND MATERNAL EASTERN EUROPEAN ANCESTRY WITH ASHKENAZI JEWISH HERITAGE; MOTHER IS OF ASIAN INDIAN DESCENT; MOTHER HAS HISTORY OF POLYCYSTIC OVARY SYNDROME (PCOS) AND WEARS GLASSES WITH -10 AND -10.5 PRESCRIPTION STRENGTH; AT <40 YRS, MOTHER'S SISTER HAS RETINAL PIGMENTATION ISSUES (NO IMPACT ON VISION), HYPOTHYROIDISM, ELEVATED BLOOD PRESSURE, AND ACQUIRED DEAFNESS AT 6 MONTHS FROM A BACTERIAL INFECTION; MATERNAL GRANDFATHER HAD TRIPLE BYPASS SURGERY IN HIS 60'S AND GLAUCOMA AND CATARACT SURGERY; MATERNAL GRANDFATHER'S FATHER DIED OF A SUDDEN HEART ATTACK IN HIS EARLY 60'S; PATERNAL UNCLE HAS DAUGHTER WITH AUTISM AND A DAUGHTER WHO HAD GLASSES/CORRECTIVE LENSES FOR STRABISMUS FROM A YOUNG AGE; PATERNAL UNCLE'S WIFE HAD A MISCARRIAGE; PATERNAL GRANDFATHER’S FAMILY HAS A HISTORY OF ALZHEIMER’S; PATERNAL GRANDMOTHER’S FATHER DIED OF CANCER AT 20-30 YRS |
| Remarks |
See "Phenotypic Data" tab.
Clinically affected. No history of birth defects, genetic disorders or developmental delay. |