title: [Rapid prenatal genetic diagnosis of a fetus with a high risk for Morquio A syndrome].
abstract: OBJECTIVE
  To provide rapid and accurate prenatal genetic diagnosis for a fetus with high risk of Morquio A syndrome.
  
  
  METHODS
  Based on ascertained etiology of the proband and genotypes of the parents, particular mutations of the GALNS gene were screened at 10th gestational week with amplification refractory mutation system (ARMS), denaturing high performance liquid chromatography (DHPLC), and direct DNA sequencing.
  
  
  RESULTS
  DHPLC screening has identified abnormal double peaks in the PCR products of exons 1 and 10, whilst only a single peak was detected in normal controls. Amplification of ARMS specific primers derived a specific product for the fetus's gene, whilst no similar product was detected in normal controls. Sequencing of PCR products confirmed that exons 1 and 10 of the GALNS gene from the fetus contained a heterozygous paternal c.106-111 del (p.L36-L37 del) deletion and a heterozygous maternal c.1097 T>C (p.L366P) missense mutation, which resulted in a compound heterozygote status.
  
  
  CONCLUSIONS
  The fetus was diagnosed with Morquio A syndrome and a genotype similar to the proband. Termination of the pregnancy was recommended. Combined ARMS, DHPLC and DNA sequencing are effective for rapid and accurate prenatal diagnosis for fetus with a high risk for Morquio A syndrome. Such methods are particularly suitable for early diagnosis when pathogenesis is clear. Furthermore, combined ARMS and DHPLC are suitable for rapid processing of large numbers of samples for the identification of new mutations.
authors.affiliation: Department of Medical Genetics, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China. guoyibin@mail.sysu.edu.cn
authors.forename: Yi-bin
authors.initials: YB
authors.lastname: Guo
authors.forename: Yang
authors.initials: Y
authors.lastname: Ai
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhao
authors.forename: Jia
authors.initials: J
authors.lastname: Tang
authors.forename: Wei-ying
authors.initials: WY
authors.lastname: Jiang
authors.forename: Min-lian
authors.initials: ML
authors.lastname: Du
authors.forename: Hua-mei
authors.initials: HM
authors.lastname: Ma
authors.forename: Yan-fang
authors.initials: YF
authors.lastname: Zhong
mesh_terms: D001483:Base Sequence; D002811:Chondroitinsulfatases / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics; D011296:Prenatal Diagnosis / Q000379:methods*; D012307:Risk Factors
chemical_list: D002811:Chondroitinsulfatases; C102295:GALNS protein, human