29446767|t|CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
29446767|a|PURPOSE: CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. Here we tested the hypothesis that, although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism. METHODS: We clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from 9 patients using high-throughput, deep sequencing. RESULTS: We identified five activating mutations in the PIK3CA gene in affected tissues from 6 of the 9 patients studied; one of the variants (NM_006218.2:c.248T>C; p.Phe83Ser) has not been previously described in developmental disorders. CONCLUSION: We describe for the first time the presence of somatic activating PIK3CA mutations in patients with CLAPO. We also report an update of the phenotype and natural history of the syndrome.
29446767	0	14	CLAPO syndrome	disease	MESH:C567763|BERN:262813101
29446767	53	59	PIK3CA	gene	MIM:171834|HGNC:8975|Ensembl:ENSG00000121879|BERN:324295302
29446767	133	147	CLAPO syndrome	disease	MESH:C567763|BERN:262813101
29446767	158	175	vascular disorder	disease	MESH:D014652|BERN:256572101
29446767	193	232	capillary malformation of the lower lip	disease	MESH:C567763|BERN:262813101
29446767	234	289	lymphatic malformation predominant on the face and neck	disease	MESH:C567763|BERN:262813101
29446767	589	594	CLAPO	disease	MESH:C567763|BERN:262813101
29446767	748	759	PIK3CA gene	gene	MIM:171834|HGNC:8975|Ensembl:ENSG00000121879|BERN:324295302
29446767	847	855	c.248T>C	mutation	CUI-less
29446767	857	867	p.Phe83Ser	mutation	CUI-less
29446767	906	929	developmental disorders	disease	BERN:257523801
29446767	1009	1025	PIK3CA mutations	gene	CUI-less
29446767	1043	1048	CLAPO	disease	MESH:C567763|BERN:262813101