. Author manuscript; available in PMC: 2009 Jul 1.

Published in final edited form as: Gut. 2009 Jan;58(1):154–156. doi: 10.1136/gut.2008.161232

Table 1.

Candidate genes investigated in the pathogenesis of juvenile polyposis

Gene	Patients studied/mutations found	Reference (first author and year)
BMPR1B (ALK6)	32/0	Howe 2004³
BMPR2	59/0^*	Howe 2004³, van Hattem 2008²
ACVR1 (ALK1)	66/0^†	Howe 2004³, Gallione 2004⁶, van Hattem 2008²
SMAD1	30/0	Bevan 1999⁴
SMAD2	34/0	Bevan 1999⁴, Roth 1999⁵
SMAD3	34/0	Bevan 1999⁴, Roth 1999⁵
SMAD5	30/0	Bevan 1999⁴
SMAD7	34/0	Bevan 1999⁴, Roth 1999⁵
CDX2	37/0	Woodford-Richens 2001⁸

32 patients investigated by sequencing (Howe ³) and 27 by multiplex ligation-dependent probe amplification (MLPA) (van Hattem²).

^†

39 patients investigated by sequencing (Howe³ and Gallione⁶) and 27 by MLPA (van Hattem²).