Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients

Table 2 Mutation analysis of Chinese patients with LP

Patient number	Mutation position	Mutation type	Parents marriage	Hospital location	Ref.
Two siblings	p.C220G	Homozygous	Unknown	Xi’an	Wang et al.[4]
Two siblings	p.C220G; p.R476X	Compound heterozygous	Non-consanguineous	Shanghai	Wang et al.[5]
Two siblings	p.C220G	Homozygous	Unknown	Shanxi	Han et al.[6]
One	p.C477R*	Homozygous	Non -consanguineous	Beijing	Liu et al.[7]
One	p.C220G	Homozygous	Non -consanguineous	Xi’an	This study
Total: 8	7 patients p.C220G

Notes: Additional 18 cases were clinically described as LP, but specific ECM1 mutations were not determined[8]. *According to the updated reference sequence (GenBank acc. no., NP_004416.2), the mutation should be named as p.C450R.

ISSN: 1479-5876