Imperial College London
Alternate

DrIsabelleSalles

Faculty of Medicine, Department of Immunology and Inflammation

Honorary Lecturer
 
 
 
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Contact

 

+44 (0)20 3313 2298i.salles

 
 
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Location

 

5S5Commonwealth BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Morren:2017:10.1186/s13023-017-0654-9,
author = {Morren, M-A and Jaeken, J and Visser, G and Salles, I and Van, Geet C and Simeoni, I and Turro, E and Freson, K},
doi = {10.1186/s13023-017-0654-9},
journal = {Orphanet Journal of Rare Diseases},
title = {PIGO deficiency: palmoplantar keratoderma and novel mutations},
url = {http://dx.doi.org/10.1186/s13023-017-0654-9},
volume = {12},
year = {2017}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - BackgroundSeveral genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia.MethodsWhole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype.ResultsTwo novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited.ConclusionA boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.
AU  - Morren,M-A
AU  - Jaeken,J
AU  - Visser,G
AU  - Salles,I
AU  - Van,Geet C
AU  - Simeoni,I
AU  - Turro,E
AU  - Freson,K
DO  - 10.1186/s13023-017-0654-9
PY  - 2017///
SN  - 1750-1172
TI  - PIGO deficiency: palmoplantar keratoderma and novel mutations
T2  - Orphanet Journal of Rare Diseases
UR  - http://dx.doi.org/10.1186/s13023-017-0654-9
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000402153500003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - http://hdl.handle.net/10044/1/49282
VL  - 12
ER  -
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