Zhu XJ

Peking University

2
EM Publications
7
h-index
(183 citations, 25 total works)

Research Topics

Dermatology and Skin Diseases (4) Ocular Infections and Treatments (4) Urticaria and Related Conditions (4) Allergic Rhinitis and Sensitization (3) Ocular Surface and Contact Lens (3)

Erythromelalgia Publications

[Research advances of genodermatosis in China].

Yang Y, Chen XX, Li H, Wu Y, Bu DF , et al.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences

Research in the field of genetic skin disease has grown rapidly over the past two decades. Even though the fundamental molecular pathways are still not fully understood, there have prominent advances in our understanding of the underlying mechanisms involved in the pathogenesis of genodermatosis. Dermatologists in China contributed to this field in recent years. They found the causative genes involved in primary erythermalgia and familial trichoepithelioma. Different gene mutations involved in more than twenty kinds of genodermatosises have been detected. This review will synthesize recent findings of the genodermatosises in China.

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.

Yang Y, Wang Y, Li S, Xu Z, Li H , et al.
Journal of medical genetics

Primary erythermalgia is a rare autosomal dominant disease characterised by intermittent burning pain with redness and heat in the extremities. A previous study established the linkage of primary erythermalgia to a 7.94 cM interval on chromosome 2q, but the causative gene was not identified. We performed linkage analysis in a Chinese family with primary erythermalgia, and screened the mutations in the two candidate genes, SCN9A and GCA, in the family and a sporadic patient. Linkage analysis yielded a maximum lod score of 2.11 for both markers D2S2370 and D2S2330. Based on critical recombination events in two patients in the family, we further limited the genetic region to 5.98 cM between D2S2370 and D2S2345. We then identified two missense mutations in SCN9A in the family (T2573A) and the sporadic patient (T2543C). Our data suggest that mutations in SCN9A cause primary erythermalgia. SCN9A, encoding a voltage-gated sodium channel alpha subunit predominantly expressed in sensory and sympathetic neurones, may play an important role in nociception and vasomotor regulation.