A novel germline mutation of the PTENgene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

William Reardon; Xiao-Ping Zhou; Charis Eng

doi:10.1136/jmg.38.12.820

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A novel germline mutation of the PTENgene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

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Re: Response to: Reardon et al. J Med Genet 2001; 38: 820-823.
William Reardon
Published on: 7 March 2002
Response to: Reardon et al. J Med Genet 2001; 38: 820-823.
Robin Winter
Published on: 19 February 2002

Published on: 7 March 2002
Re: Response to: Reardon et al. J Med Genet 2001; 38: 820-823.
- William Reardon, Consultant Clinical Geneticist
Dear Editor,
My co-authors and I are grateful to Professor Winter for drawing this point to our attention. The baby was found to have a tracheo-oesophageal fistula and oesophageal atresia which were the subject of surgical correction on day 2 of life. These findings strengthened concerns with respect to VATER association. I regret that the inadvertant omission of these clinical data have led to any confusion an...
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Dear Editor,
My co-authors and I are grateful to Professor Winter for drawing this point to our attention. The baby was found to have a tracheo-oesophageal fistula and oesophageal atresia which were the subject of surgical correction on day 2 of life. These findings strengthened concerns with respect to VATER association. I regret that the inadvertant omission of these clinical data have led to any confusion and welcome this opportunity to clarify.
May I assure Professor Winter, from a country where the health service relies heavily on miracles in the absence of any meaningful state funding for beds, doctors, nurses, laboratory staff, equipment or facilities, that it is indeed heartening to learn that our observations are deemed to be "a significant contribution to the literature" in other, more heady environments. It is one of our few consolations to learn that distinguished colleagues elsewhere might consider our report to be worthy of their attention. It would indeed be wonderful to see our contribution highlighted in the London Dysmorphology Database, v 3, though it will require either a miracle or Professor Winter's philantrophy for this author to see it. If I don't hear from Professor Winter, I shall start praying....
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Conflict of Interest:
None declared.
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Published on: 19 February 2002
Response to: Reardon et al. J Med Genet 2001; 38: 820-823.
- Robin Winter, Professor of Clinical Genetics and dysmorphology
Dear Editor,
The single case report of a child with features of VATER association and a PTEN mutation by Reardon et al., (2001) is certainly a significant contribution to the literature. I am going to highlight it prominently in the London Dysmorphology Database (Winter and Baraitser, 2001) (ver. 3 with significant enhancements now available from Oxford University Press). However the case report is somewhat puz...
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Dear Editor,
The single case report of a child with features of VATER association and a PTEN mutation by Reardon et al., (2001) is certainly a significant contribution to the literature. I am going to highlight it prominently in the London Dysmorphology Database (Winter and Baraitser, 2001) (ver. 3 with significant enhancements now available from Oxford University Press). However the case report is somewhat puzzling. The infant was found to have an absent stomach bubble and polyhydramnios on ultrasonography. This was interpreted as indicating a probable tracheo-oesophageal fistula. As far as I am aware, an isolated tracheo-oesophageal fistula would not cause an absent stomach bubble, unless associated with oesophageal atresia. Even more surprising, postnatally this abnormality appears to have disappeared, as there is no mention of investigation or treatment. I realise the patient is probably from Ireland, where such miracles are relatively frequent, but it would be useful to know if this malformation was confirmed, as obviously the presence of an oesophageal abnormality increases the overlap with VATER association. Could the authors clarify this point?
Professor Robin M Winter
Department of Clinical Genetics
Institute of Child Health
London
Reference
Reardon W, Zhou X-P, Eng C (2001). A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. J Med Genet 2001;38:820-823.
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Conflict of Interest:
None declared.
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