Open AccessNeonatal 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
Author(s) -
Wood Kirsten A.,
Zambrano Regina M.,
Cheek Bradley J.,
Arcement Christopher,
Haymon Marie,
Steinkampf Jessica,
Sampath Srirangan,
Hyland James C.,
Lacassie Yves
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.835
Subject(s) - medicine , concomitant , mutation , compound heterozygosity , alpha (finance) , beta (programming language) , genetics , biology , gene , surgery , construct validity , computer science , patient satisfaction , programming language
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.