title: [Genetic analysis and prenatal diagnosis for a family with megalencephalic leukoencephalopathy and subcortical cysts].
abstract: OBJECTIVE
  To identify potential mutation in the MLC1 gene in a Chinese family affected with megalencephalic leukoencephalopathy and subcortical cysts (MLC), and to provide prenatal diagnosis.
  
  
  METHODS
  Genomic DNA of the patients, their parents and younger sister were extracted from peripheral blood. That of the fetus was extracted from an amniotic fluid sample. A total of 12 exons and at least 100 bp flanking the intronic sequence of the MLC1 gene were amplified with PCR. MLC1 mutations were screened by sequencing. Linkage analysis was performed for the family to assure accuracy of prenatal diagnosis.
  
  
  RESULTS
  The two patients were both heterozygote for c.177_178delG (p.Ser60AlafsX5) mutation in exon 2 and c.598-2A>C change in intron 7. The c.177_178delG mutation was inherited from the father, and the c.598-2A>C mutation was inherited from the mother. The younger sister and the fetus have both inherited c.177_178delG from the father but did not inherit c.598-2A>C from the mother. Prenatal diagnosis suggested the fetus to be a carrier for a MLC1 mutation. Linkage analysis was consistent with the result of mutation detection. The fetus was born normal as predicted.
  
  
  CONCLUSIONS
  The c.598-2A>C is a novel splicing mutation. Prenatal diagnosis through DNA sequencing and linkage analysis were performed for the first time on Chinese patients with MLC.
authors.affiliation: Southern Medical University Affiliated Shenzhen Maternity & Child Healthcare Hospital, Shenzhen, Guangdong, People's Republic of China.
authors.forename: Wei-qing
authors.initials: WQ
authors.lastname: Wu
authors.forename: Jian-sheng
authors.initials: JS
authors.lastname: Xie
authors.forename: Chun-xi
authors.initials: CX
authors.lastname: Han
authors.forename: Zhi-yong
authors.initials: ZY
authors.lastname: Xu
authors.forename: Qian
authors.initials: Q
authors.lastname: Geng
authors.forename: Hui
authors.initials: H
authors.lastname: Yuan
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D003560:Cysts / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D005820:Genetic Testing; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C425069:MLC1 protein, human; D008565:Membrane Proteins