Table 3 Genotype–phenotype correlation (age at diagnosis, gastric polyposis, hereditary haemorrhagic telangiectasia phenotype) in carriers of SMAD4 and BMPR1A mutations.

		SMAD4		BMPR1A
All patients		41		27
Unrelated index patients		23		16
Affected relatives		18		10
Gastric polyposis		22/30*		1/13*
HHT phenotype		5		–
Median age at diagnosis JPS (years, range)		12 (3–55)†		14 (1–46)†
Median age at gastroscopy (years; range)		35 (11–60)‡		26 (4–73)‡
Gastric polyposis present		41 (23–60)§		31
Gastric polyposis absent		16 (11–33)§¶		21 (4–73)¶

HHT, hereditary haemorrhagic telangiectasia; JPS, juvenile polyposis syndrome.

*p<0.001; †p = 0.48; ‡p = 0.71; §p<0.001; ¶p = 0.15.