title: Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novelGNPTABmutation, and a concomitant heterozygous change inSERPINF1inherited from the mother.
abstract: We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenicGNPTABvariant. Molecular testing for autosomal recessive OI identified aSERPINF1variant.
authors.affiliation: Department of Genetics LSU Health Sciences Center New Orleans Louisiana USA.
authors.forename: Kirsten A
authors.initials: KA
authors.lastname: Wood
authors.affiliation: Department of Pediatrics Division of Genetics LSU Health Sciences Center and Children's Hospital New Orleans Louisiana USA.
authors.forename: Regina M
authors.initials: RM
authors.lastname: Zambrano
authors.affiliation: Department of Pathology LSU Health Sciences Center New Orleans Louisiana USA.
authors.forename: Bradley J
authors.initials: BJ
authors.lastname: Cheek
authors.affiliation: Department of Radiology Children's Hospital New Orleans Louisiana USA.
authors.forename: Christopher
authors.initials: C
authors.lastname: Arcement
authors.affiliation: Department of Radiology Children's Hospital New Orleans Louisiana USA.
authors.forename: Marie
authors.initials: M
authors.lastname: Haymon
authors.affiliation: Department of Pediatrics LSU Health Sciences Center New Orleans Louisiana USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Steinkampf
authors.affiliation: Prevention Genetics Marshfield Wisconsin USA.
authors.forename: Srirangan
authors.initials: S
authors.lastname: Sampath
authors.affiliation: Connective Tissue Gene Tests Allentown Pennsylvania USA.
authors.forename: James C
authors.initials: JC
authors.lastname: Hyland
authors.affiliation: Department of Pediatrics Division of Genetics LSU Health Sciences Center and Children's Hospital New Orleans Louisiana USA.
authors.forename: Yves
authors.identifier: 0000-0002-6231-4967
authors.initials: Y
authors.lastname: Lacassie
keywords: Compound heterozygosity; GNPTAB mutation; SERPINF1; mucolipidosis type II alpha/beta; neonatal