Abstract
Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosphatidylinositol 3-kinase catalytic alpha (PIK3CA, OMIM 171834) gene. Here we report a Hungarian girl with macrodactyly and syndactyly. Genetic screening at hotspots in the PIK3CA gene identified a mosaic mutation (c.1624G > A, p.Glu542Lys) in the affected tissue, but not in the peripheral blood. To date, this somatic mutation has been reported in eight patients affected by different forms of segmental overgrowth syndromes. Detailed analysis of the Hungarian child and previously reported cases suggests high phenotypic diversity associated with the p.Glu542Lys somatic mutation. The identification of the mutation provides a novel therapeutic modality for the affected patients: those who carry somatic mutations in the PIK3CA gene are potential recipients of a novel "repurposing" approach of rapamycin treatment.
| Original language | English |
|---|---|
| Pages (from-to) | 223-226 |
| Number of pages | 4 |
| Journal | European Journal of Medical Genetics |
| Volume | 59 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - ápr. 1 2016 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. / Tripolszki, Kornélia; Knox, Rachel; Parker, Victoria; Semple, Robert; Farkas, Katalin; Sulák, Adrien; Horváth, Emese; Széll, M.; Nagy, N.
In: European Journal of Medical Genetics, Vol. 59, No. 4, 01.04.2016, p. 223-226.Research output: Article
}
TY - JOUR
T1 - Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly
AU - Tripolszki, Kornélia
AU - Knox, Rachel
AU - Parker, Victoria
AU - Semple, Robert
AU - Farkas, Katalin
AU - Sulák, Adrien
AU - Horváth, Emese
AU - Széll, M.
AU - Nagy, N.
PY - 2016/4/1
Y1 - 2016/4/1
N2 - Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosphatidylinositol 3-kinase catalytic alpha (PIK3CA, OMIM 171834) gene. Here we report a Hungarian girl with macrodactyly and syndactyly. Genetic screening at hotspots in the PIK3CA gene identified a mosaic mutation (c.1624G > A, p.Glu542Lys) in the affected tissue, but not in the peripheral blood. To date, this somatic mutation has been reported in eight patients affected by different forms of segmental overgrowth syndromes. Detailed analysis of the Hungarian child and previously reported cases suggests high phenotypic diversity associated with the p.Glu542Lys somatic mutation. The identification of the mutation provides a novel therapeutic modality for the affected patients: those who carry somatic mutations in the PIK3CA gene are potential recipients of a novel "repurposing" approach of rapamycin treatment.
AB - Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosphatidylinositol 3-kinase catalytic alpha (PIK3CA, OMIM 171834) gene. Here we report a Hungarian girl with macrodactyly and syndactyly. Genetic screening at hotspots in the PIK3CA gene identified a mosaic mutation (c.1624G > A, p.Glu542Lys) in the affected tissue, but not in the peripheral blood. To date, this somatic mutation has been reported in eight patients affected by different forms of segmental overgrowth syndromes. Detailed analysis of the Hungarian child and previously reported cases suggests high phenotypic diversity associated with the p.Glu542Lys somatic mutation. The identification of the mutation provides a novel therapeutic modality for the affected patients: those who carry somatic mutations in the PIK3CA gene are potential recipients of a novel "repurposing" approach of rapamycin treatment.
KW - Macrodactyly and syndactyly
KW - Overgrowth syndromes
KW - Phenotypic diversity
KW - PIK3CA gene
KW - Somatic mutation
UR - http://www.scopus.com/inward/record.url?scp=84960795639&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84960795639&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2016.02.002
DO - 10.1016/j.ejmg.2016.02.002
M3 - Article
C2 - 26851524
AN - SCOPUS:84960795639
VL - 59
SP - 223
EP - 226
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 4
ER -