title: Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.
abstract: BACKGROUND
  H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin, as well as other systemic manifestations. Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India. The syndrome is caused by mutations in solute carrier family 29, member 3 (SLC29A3), the gene encoding equilibrative nucleoside transporter 3. The aim of this study was to identify pathogenic SLC29A3 mutations in a Chinese patient clinically diagnosed with H syndrome.
  
  
  METHODS
  Peripheral blood samples were collected from the patient and his parents. Genomic DNA was isolated by the standard method. All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction (PCR)-amplified and the PCR products were subjected to direct sequencing.
  
  
  RESULTS
  The patient, an 18-year-old man born to a nonconsanguineous Chinese couple, had more extensive cutaneous lesions, involving both buttocks and knee. In his genomic DNA, we identified a novel homozygous insertion-deletion, c. 1269_1270delinsA, in SLC29A3. Both of his parents were carriers of the mutation.
  
  
  CONCLUSIONS
  We have identified a pathogenic mutation in a Chinese patient with H syndrome.
authors.forename: Jia-Wei
authors.initials: JW
authors.lastname: Liu
authors.forename: Nuo
authors.initials: N
authors.lastname: Si
authors.forename: Lian-Qing
authors.initials: LQ
authors.lastname: Wang
authors.forename: Ti
authors.initials: T
authors.lastname: Shen
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zeng
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
authors.forename: Dong-Lai
authors.initials: DL
authors.lastname: Ma
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D044466:Asian People; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human