title: Clinical and genetic analysis of two Chinese infants with Mabry syndrome.
abstract: OBJECTIVE
  Hyperphosphatasia mental retardation syndrome (Mabry syndrome) is an autosomal recessive disorder. We aim to analyze two Chinese patients diagnosed as Mabry syndrome.
  
  
  METHODS
  The clinical manifestations, diagnosis and treatment were observed in two patients. Genetic analysis including PIGV and PIGO was examined.
  
  
  RESULTS
  Two patients were diagnosed as Mabry syndrome clinically and genetically. Developmental delay, hyperphosphatasia and seizures were presented in both of them. Typical facial dysmorphism and hypoplastic terminal phalanges were only found in one. Some novel presentations including congenital laryngeal cartilage softening, inguinal hernia, broken palmprint, optic atrophy and skeleton dysplasia such as carpal age delay and metaphysis anomalies were observed in two patients. Molecular genetic analysis revealed compound heterozygous mutations of PIGV or PIGO in our patients, including c.615C>G (p.Asn205Lys) and c.854A>G (p.Tyr285Cys) of PIGV in patient 1, and c.458T>C (p.Phe153Ser) and c.1355_1356del (p.Ala452Glyfs*52) of PIGO in patient 2. Additionally, a heterozygous c.2926G>A (Asp976Asn) of PCDH19 was identified in patient with PIGV mutations, the causative gene of Epilepsy and mental retardation limited to females (EFMR).
  
  
  CONCLUSIONS
  To our best knowledge, this is the first time to report Chinese patients diagnosed as Mabry syndrome. For the PCDH19 mutation in our patient carrying PIGV mutations, due to lacking characteristics of EFMR and the ambiguity results in pathogenicity analysis, we were not sure how much pathogenic role PCDH19 mutation shared with PIGV mutations in this disease. The novel mutations of PIGV and PIGO, and novel clinical manifestations reported here might expand the genotype and phenotype spectrum of Mabry syndrome.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Jiao
authors.initials: J
authors.lastname: Xue
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Yuehua
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China. Electronic address: zhixian.yang@163.com.
authors.forename: Zhixian
authors.initials: Z
authors.lastname: Yang
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D044466:Asian People; D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology; D015820:Cadherins / Q000235:genetics; D002681:China; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D010760:Phosphorus Metabolism Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D000091363:Protocadherins
chemical_list: D015820:Cadherins; D008565:Membrane Proteins; C438605:PCDH19 protein, human; C485854:PIGO protein, human; D000091363:Protocadherins; D008364:Mannosyltransferases; C553105:PIGV protein, human
keywords: Cognitive disability; Hyperphosphatasia; PIGO gene; PIGV gene; Seizures