title: [Clinical and mutation analysis of a Chinese family with muscle eye brain disease].
abstract: OBJECTIVE
  To study the clinical feature of a Chinese family with muscle-eye-brain disease (MEB) and the mutation of protein O-linked-mannose beta-1, 2-N-acetylglucosaminyltransferase 1 gene (POMGNT1).
  
  
  METHODS
  Clinical data of the proband and his family members were collected. Genomic DNA from the patient and his parents was extracted using standard procedures from the peripheral blood leukocytes. Polymerase chain reaction and DNA direct sequencing were employed to analyze all of the exons to determine the mutation, and the relationship between genotype and phenotype was analyzed.
  
  
  RESULTS
  The proband was diagnosed as floppy baby, presented with delayed psychomotor development and myopathic face. His serum creatine kinase (CK) level elevated moderately and brain MRI showed cerebral and cerebellar gyrus abnormalities with white matter signal intensity changes, cerebellar cysts and cerebellar and brain stem hypoplasia, consistent with congenital muscular dystrophy with eye brain disorder. Further test with DNA detected a compound heterozygous mutation of c.1896 1 G to C before exon 22 which may induce splicing error, and missense mutation c.1319T to G, p.L440R in exon 16. Both parents had a heterozygous mutation at the mutation sites.
  
  
  CONCLUSIONS
  According to our study, the family is diagnosed as MEB. The proband carried compound heterozygous mutations in the POMGNT1 gene, and his parents are heterozygous carriers, which is consistent with autosomal recessive inheritance. The child is definitely diagnosed as having muscle eye brain disease.
authors: Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China.
authors: Hui
authors: H
authors: Jiao
authors: Hui
authors: H
authors: Xiong
authors: Yan-zhi
authors: YZ
authors: Zhang
authors: Shuo
authors: S
authors: Wang
authors: Yan-ling
authors: YL
authors: Yang
authors: Xi-ru
authors: XR
authors: Wu
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010641:Phenotype; D016415:Sequence Alignment; D058494:Walker-Warburg Syndrome / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase