It is all in the history, or is it? | ADC Education & Practice Edition

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It is all in the history, or is it?

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Differential molecular diagnosis is a need to support the history
Atif Baig
Published on: 23 March 2016

Published on: 23 March 2016
Differential molecular diagnosis is a need to support the history
- Atif Baig, Medical Lecturer
- Other Contributors:
  Rabia A, Iftikhar A, Amir R, Iqbal HK
Respected Sir. We have read the entire article. We agree with the history and the condition of the Alice as mentioned by the respected authors. But, we strongly believe the molecular diagnosis testing must be performed to confirm Benign hereditary chorea which is map to chromosome 14q (Vries et al., 1999). Beside mapping a mutation in TITF-1 gene has been reported to be associated with hereditary benign chorea (Breedveld...
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Respected Sir. We have read the entire article. We agree with the history and the condition of the Alice as mentioned by the respected authors. But, we strongly believe the molecular diagnosis testing must be performed to confirm Benign hereditary chorea which is map to chromosome 14q (Vries et al., 1999). Beside mapping a mutation in TITF-1 gene has been reported to be associated with hereditary benign chorea (Breedveld et al., 2002-2). This mutation in TITF-1 can be analyzed directly but yet considering the heterogeneity of the benign hereditary chorea, the region 14q13.1-q21.1 at chromosome could be screened as reported previously (Breedveld et al., 2002-3).
We agree the differential clinical diagnosis has been performed but yet it couldn't stand alone in the hereditary disorders in an era of productivity where a disease could be diagnosed in 1-2 days based on the molecular findings to have the best of prognosis.
Reference:
1. de Vries BB, Arts WF, Breedveld GJ, Hoogeboom JJ, Niermeijer MF, Heutink P. Benign hereditary chorea of early onset maps to chromosome 14q. Am J Hum Genet. 2000 Jan;66(1):136-42.
2. Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P,Lazarou LP, van der Linde H, Joosse M, Gr?ters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet. 2002 Apr 15;11(8):971-9.
3.Breedveld GJ, Percy AK, MacDonald ME, de Vries BB, Yapijakis C, Dure LS, Ippel EF, Sandkuijl LA, Heutink P, Arts WF. Clinical and genetic heterogeneity in benign hereditary chorea. Neurology. 2002 Aug 27;59(4):579-84.
Conflict of Interest:
None declared
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Conflict of Interest:
None declared.
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