Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother

• Published in: Clinical case reports Vol. 5; no. 4; pp. 431 - 434
• Main Authors: Wood, Kirsten A., Zambrano, Regina M., Cheek, Bradley J., Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C., Lacassie, Yves
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.04.2017; John Wiley and Sons Inc
• Subjects: Age; Bones; Case Report; Case Reports; Compound heterozygosity; Fingers & toes; Fractures; Genomes; Genotype & phenotype; GNPTAB mutation; mucolipidosis type II alpha/beta; Mutation; neonatal; SERPINF1; neonatal; Compound heterozygosity; GNPTAB mutation; SERPINF1; mucolipidosis type II alpha/beta
• ISSN: 2050-0904; 2050-0904
• DOI: 10.1002/ccr3.835

Key Clinical Message 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 pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant. 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 pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant.