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A 6-Year-Old Boy Is Evaluated in the Office for Difficulty

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A 6-year-old boy is evaluated in the office for difficulty hearing.  The patient has no ear pain, discharge, or upper respiratory symptoms.  Initial testing suggests that he has bilateral sensorineural hearing loss.  He has no motor deficits or cerebellar signs.  His paternal uncle died suddenly at age 12.  Examination of the ears, nose, and throat is normal.  ECG shows normal sinus rhythm with a prolonged QT interval (520 msec) .  Echocardiogram shows normal left and right ventricular function with no significant valvular disease.  A genetic defect affecting which of the following is most likely present in this patient?


Definitions:

Stanley Milgram

A psychologist known for his research on obedience, demonstrating how people are willing to follow orders from an authority figure, even to the extent of causing harm to others.

Dissent

The expression or holding of opinions at variance with those previously, commonly, or officially held.

Situational Factors

External influences that affect an individual's behavior, decision-making process, and performance in various contexts.

Conscience

An inner feeling or voice viewed as acting as a guide to the rightness or wrongness of one's behavior.

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