| CASE REPORT |
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| Year : 2019 | Volume
: 37
| Issue : 2 | Page : 82-85 |
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Novel compound heterozygous mutations of ECM1 in a Chinese family with lipoid proteinosis
Wei Wu1, Jian-Qiang Shi1, Ding Li1, Fang-Gu Li1, Yan-Xia Cai1, Di-Qing Luo2
1 Department of Dermatology, The Affiliated Hospital of Guangdong Medical University, Zhanjiang, China
2 Department of Dermatology, The Eastern Hospital of The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
Correspondence Address:
Prof. Di-Qing Luo
Department of Dermatology, The Eastern Hospital of The First Affiliated Hospital, Sun Yat-sen University, 183 Huangpu Rd. E., Guangzhou 510700
China
Prof. Jian-Qiang Shi
Department of Dermatology, The Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong Province 524000
China
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/ds.ds_23_18
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Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by mutations of the ECM1 gene. The common variations of the ECM1 gene are nonsense and missense mutations, and in rare instance, compound heterozygotes may occur. We describe two siblings of LP from a nonconsanguineous family of China who were detected novel compound heterozygous mutations of c. 157C >T(p. R53X) in exon 3 and c. 857G >A (p. C286Y) in exon 7 of the ECM1 gene. Their mother was a carrier of missense mutation of c. 857G >A in exon 7 of ECM1, their father and one of the old sisters were the carriers of nonsense mutation of c. 157C >T in exon 3, respectively. All the carriers presented normally. The results support the opinion that the mutations of the ECM1 gene for LP are of varieties.
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