Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families

BMC Medical Genetics

Table 1 Overview on the characteristics of 10 MO-families

Family number	Patient number	Disease occurrence	Geographic origin	Deletion at exon-level	Forward PCR-primer	Reverse PCR-primer
EXT1
89	54782	Familial	USA	exon 2-11	GGGCAAAATTGTCCTCTGTC	TTGGTTGAGAGCCCAGATTT
200	73585	Familial	Spain	exon 8	CCCCACACACACACACTACA	TCAAATGCATAAACTCACTTCTGA
250	74559	Familial	USA	exon 2-3	CGGGAGAGAGAAACCATGAA	TGAGAGGGGAAAAACACCAG
300	86255	Familial	-	exon 6-7	CCAAACCTGTTATGGGAACC	GATTTTCCCCCAGATGGTGT
338	91636	De novo	Bulgaria	exon 11	TCATTATGTGGTGCATGACTG	CCTTTATGAAAGGCCACCAG
361	94668	-	Denmark	exon 2-11	GTTGACTGGTCCCACTGGTT	TGTCTTCCCAATCCTGTTTCA
EXT2
122	59931	Familial	Spain	exon 8	CCCATTGCCTTTGCATTACT	TGACTCCTCATGCAACCAAA
334	91391	De novo	Bulgaria	exon 8	CCCATTGCCTTTGCATTACT	TGACTCCTCATGCAACCAAA
150	60859	Familial	USA	exon 2	ATGCAGGATGCCAAAATA	CCCAACAGCACATCAGACAC
279	84389	Familial	Macedonia	exon 8	GGATGGAAATGTGGGATAAGG	CACACCACCAGGGTTAATGC

Overview on the disease occurrence, the geographic origin as well as the deletion at exon-level. Patient numbers were provided together with MO-family numbers, so additional information on our patients can be accessed in the MOdb http://medgen.ua.ac.be/LOVDv.2.0/home.php. Additionally, primers for allele-specific PCR-amplification of the deletion breakpoint are listed.

ISSN: 1471-2350