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PIGQ glycosylphosphatidylinositol‐anchored protein deficiency: Characterizing the phenotype |
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| Authors: | Lois J Starr Jürgen W Spranger Vamshi K Rao Richard Lutz Anji T Yetman |
| Institution: | 1. https://orcid.org/0000-0002-9212-2499;2. Department of Pediatrics, Children's Hospital and Medical Center, University of Nebraska Medical Center, Omaha, Nebraska;3. Lois J. Starr, MD, FAAP, FACMG, Associate Professor of Pediatrics, Clinical Genetics, Department of Pediatrics, 985440 Nebraska Medical Center, Omaha, NE 68198‐5440.;4. University of Mainz Children's Hospital, Mainz, Germany;5. Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois |
| Abstract: | PIGQ (OMIM *605754) encodes phosphatidylinositol glycan biosynthesis class Q (PIGQ) and is required for proper functioning of an N‐acetylglucosamine transferase complex in a similar manner to the more established PIGA, PIGC, and PIGH. There are two previous patients reported with homozygous and apparently deleterious PIGQ mutations. Here, we provide the first detailed clinical report of a patient with heterozygous deleterious mutations associated with glycosylphosphatidylinositol‐anchored protein (GPI‐AP) biosynthesis deficiency. Our patient died at 10 months of age. The rare skeletal findings in this disorder expand the differential diagnosis of long bone radiolucent lesions and sphenoid wing dysplasia. This clinical report describes a new and rare disorder—PIGQ GPI‐AP biosynthesis deficiency syndrome. |
| Keywords: | bone lesion developmental delay inherited glycosylphosphatidylinositol‐anchored protein (GPI‐AP) deficiency PIGQ sphenoid wing dysplasia |