You sequence the TBX1 gene from patients to diagnose if they have DiGeorge syndrome, and you find the mutations listed below. Do you conclude this patient has DiGeorge syndrome? Briefly explain why

Human Anatomy & Physiology (11th Edition)
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Patient 1: a conservative missense mutation affecting amino acid 75

Patient 2: a synonymous mutation affecting amino acid 250

Patient 3: a nonsense mutation at amino acid 100.

Patient 4: a 2 base-pair insertion after amino acid 352

TBX1 is a DNA-binding transcription factor that is frequently mutated in the human congenital disease
DiGeorge syndrome. The TBX1 protein is 398 amino acids long, and it contains a T-box DNA-binding
domain spanning amino acids 119-297 that is sufficient for its normal function (see schematic diagram
below where numbers indicate ammo acid positions).
T-box DNA binding domain
25
50
75
100
125
150
175
200
225
250
275
300
325
350
375
You sequence the TBX1 gene from patients to diagnose if they have DiGeorge syndrome, and you find
the mutations listed below. Do you conclude this patient has DiGeorge syndrome? Briefly explain why.
Transcribed Image Text:TBX1 is a DNA-binding transcription factor that is frequently mutated in the human congenital disease DiGeorge syndrome. The TBX1 protein is 398 amino acids long, and it contains a T-box DNA-binding domain spanning amino acids 119-297 that is sufficient for its normal function (see schematic diagram below where numbers indicate ammo acid positions). T-box DNA binding domain 25 50 75 100 125 150 175 200 225 250 275 300 325 350 375 You sequence the TBX1 gene from patients to diagnose if they have DiGeorge syndrome, and you find the mutations listed below. Do you conclude this patient has DiGeorge syndrome? Briefly explain why.
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