title: Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation.
abstract: We report a neonate who was diagnosed as a case of skeletal dysplasia during pregnancy, and was subsequently diagnosed as a case of MLII alpha/beta on the basis of clinical and radiological findings and molecular testing of the parents. A novel GNPTAB mutation c.1701delC [p.F566LfsX5] was identified in the father. The case reiterates the severe prenatal phenotype of MLII alpha/beta which mimics skeletal dysplasia and illustrates the utility of molecular genetic analysis in confirmation of diagnosis and subsequent genetic counselling.
authors.affiliation: Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Shagun
authors.initials: S
authors.lastname: Aggarwal
authors.affiliation: Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal; IPATIMUP, Porto, Portugal; Department of Biology, Faculty of Sciences, Porto, Portugal.
authors.forename: Maria Francisca
authors.initials: MF
authors.lastname: Coutinho
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: Ashwin B
authors.initials: AB
authors.lastname: Dalal
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: S Jamal
authors.initials: SJ
authors.lastname: Mohamed Nurul Jain
authors.affiliation: IPATIMUP, Porto, Portugal; Department of Biology, Faculty of Sciences, Porto, Portugal.
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Prata
authors.affiliation: Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal. Electronic address: sandra.alves@insa.min-saude.pt.
authors.forename: Sandra
authors.initials: S
authors.lastname: Alves
mesh_terms: D001848:Bone Diseases, Developmental / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009081:Mucolipidoses / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation; D011247:Pregnancy; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: D017855:Transferases (Other Substituted Phosphate Groups); C511050:GNPTAB protein, human
keywords: GNPTAB; Molecular characterization; Mucolipidosis type II alpha/beta; Skeletal dysplasia