Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

Table 1

Previously reported LEMD3 mutations.

Point mutations	94X	Buschke-Ollendorff syndrome [30]
(Missense/nonsense)	457C > T	Osteopoikilosis [2]
	620X	Buschke-Ollendorff syndrome (present study)
	641X	Buschke-Ollendorff syndrome [4]
	1323C > A	Osteopoikilosis [28]
	1609C > T	Osteopoikilosis and Melorheostosis [2]
	1801G > T	Osteopoikilosis [8]
	1873C > T	Melorheostosis [39]
	1913T > A	Melorheostosis [8]
	2032C > T	Osteopoikilosis [25]
	2203C > T	Buschke-Ollendorff syndrome [1]
	2564G > A	Buschke-Ollendorff syndrome [29]
Insertions/deletions/duplications/indels	332_333 insTC	Buschke-Ollendorff syndrome [28]
	830 dupA	Melorheostosis [8]
	1033–1035 delGGGinsC	Osteopoikilosis [2]
	1185 dupT	Osteopoikilosis [2]
	1914 dupA	Buschke-Ollendorff syndrome [8]
	1941 +5delG	Osteopoikilosis [2]
	2154 dupA	Osteopoikilosis [2]
	Entire gene deletion	Osteopoikilosis [2]
None		Buschke-Ollendorff syndrome [47]
Splicing	IVS1 ds +1 G-A	Collagenoma [26]
	IVS12 ds +1 G-A	Buschke-Ollendorff syndrome [48]