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cockayne syndrome
Cockayne Syndrome Type B
Cerebro-Oculo-Facio Skeletal Syndrome
HIS SYMPTOMS
-FALLEN BEHIND IN HEIGHT AND WEIGHT
-EXTREMELY SENSITIVE TO SUNLIGHT
-HAS SHOWN SIGNS OF DEVELOPMENTAL DELAYS
HOW DID WE KNOW
HOW THAT COMPARES
MOST KIDS ALSO SHOW SIGNS OF:
- ABNORMAL: skin pigmentation, hair growth,
ears, and heart rate
- Sensitivity to sunlight
HOW THAT COMPARES
- Mental deficiencies
- Growth Delays
HOW did this happen?
HIS GENE TRANSCRIPT:
GAA ACA GUU UAA AGU CAU CAU AUG
UCU CCA GUG UCC ACC AAG CAC UGU UUG
HIS AMINO ACID SEQUENCE:
GLU THR PHE STOP
NON-AFFECTED KID'S GENE TRANSCRIPT:
GAA ACA CUU UAU AGA CAU AUG
UCA CCA GUC UCC AAG CAC UGU UUG
NON- AFFECTED KID'S AMINO ACID SEQUENCE
GLU THR LEU TYR SER HIS MET SER PRO VAL SER LYS HIS CYS LEU
THE DIFFERENCE
HIS TRANSCRIPT:
GAA ACA GUU UAA AGU CAU CAU AUG
UCU CCA GUG UCC ACC AAG CAC UGU UUG
HIS AMINO ACID SEQUENCE:
GLU THR PHE STOP
NON-AFFECTED KID'S TRANSCRIPT:
GAA ACA CUU UAU AGA CAU AUG
UCA CCA GUC UCC AAG CAC UGU UUG
NON-AFFECTED KID'S AMINO ACID SEQUENCE:
GLU THR LEU TYR SER HIS MET SER PRO VAL SER LYS HIS CYS LEU
WHAT THAT MEANS
GENE: ERCC8
LOCATION: 5q12.1
PROTEIN NAME: WD REPEAT PROTEIN
PROTEIN FUNCTION: INTERACTS WITH COCKYANE SYNDROME TYPE B
THE MUTATION OF GENE ERCC8 CAUSES THE REST OF THE AMINO ACID SEQUENCE TO BE THROWN OFF/ STOPPED EARLY.
THIS RESULTS IN COCKAYNE SYNDROME TYPE B
HOW TO MAKE SURE
TESTING METHODS:
- DELETION PANEL
- DUPLICATION PANEL
- WGS PANEL
- COMPREHENSIVE PANEL
WHAT YOU CAN DO
- NO CURE
- HE WILL NEED SUPPORTIVE CARE FOR THE REST OF HIS LIFE
- WILL END UP WITH A FEEDING TUBE
- THE PROBABILITY OF HIM LIVING PAST 7 IS UNLIKELY