title: [A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].
abstract: OBJECTIVE
  To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS).
  
  
  METHODS
  Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants.
  
  
  RESULTS
  The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin. A complete uniparental disomy of chromosome 16 was revealed by CMA. WES has identified a novel homozygous mutation c.67A>G (p.Lys23Glu) in ORC6 gene mapped to chromosome 16. As predicted by Alamut functional software, the mutation may affect the function of structural domain of the ORC6 protein.
  
  
  CONCLUSIONS
  The patient is probably the first diagnosed MGS case in China, who carried a novel homozygous mutation of the ORC6 gene and uniparental disomy of chromosome 16. The effect of this novel mutation on the growth and development needs to be further investigated.
authors.affiliation: Department of Endocrinology, Metabolism and Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China. labwangjian@shsmu.edu.cn; wangxiumin1019@126.com.
authors.forename: Juan
authors.initials: J
authors.lastname: Li
authors.forename: Yu
authors.initials: Y
authors.lastname: Ding
authors.forename: Guoying
authors.initials: G
authors.lastname: Chang
authors.forename: Qing
authors.initials: Q
authors.lastname: Cheng
authors.forename: Xin
authors.initials: X
authors.lastname: Li
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Xiumin
authors.initials: X
authors.lastname: Wang
authors.forename: Yiping
authors.initials: Y
authors.lastname: Shen
mesh_terms: D001483:Base Sequence; D002648:Child; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D065817:Congenital Microtia / Q000235:genetics*; D005192:Family Health; D005220:Fathers; D006130:Growth Disorders / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008844:Micrognathism / Q000235:genetics*; D009154:Mutation; D051738:Origin Recognition Complex / Q000235:genetics*; D010329:Patella / Q000002:abnormalities*; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA / Q000379:methods; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: C497227:ORC6 protein, human; D051738:Origin Recognition Complex