title: Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS.
abstract: Children with Albright's hereditary osteodystrophy (AHO) suffering from spinal cord compression are rarely reported worldwide. The association of compressive myelopathy with AHO is not still well known. AHO is a rare heterogeneous group of inherited disorders and results from the GNAS mutation. AHO manifests in two different phenotypes, pseudohypoparathyroidism type Ia (PHP-Ia) and pseudopsedohypoparthyroidim (PPHP), which may happen in the same family members. We present the case of a 15-year-old boy with AHO features, who was later diagnosed with PHP-Ia. He suffered from cervical myelopathy with paraparesis due to spinal stenosis. His mother with AHO phenotype was diagnosed with PPHP without spinal stenosis. Genetic analysis revealed a novel heterozygous nonsense mutation within exon 1 of GNAS(c.49A>T; p.Lys17*) in both of them. This is the first clinically, biochemically, and genetically identified child case of spinal stenosis and paraparesis associated with PHP-Ia, having a novel GNAS mutation in Korea.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Inha University of Medicine, Incheon, Republic of Korea.
authors.forename: Sang Heon
authors.initials: SH
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Inha University of Medicine, Incheon, Republic of Korea.
authors.forename: Seung Hyeon
authors.initials: SH
authors.lastname: Mun
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Sung Yoon
authors.initials: SY
authors.lastname: Cho
authors.affiliation: Department of Radiology, Graduate School of Medicine, Inha University of Medicine, Incheon, Republic of Korea.
authors.forename: Yeo Ju
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Inha University of Medicine, Incheon, Republic of Korea anicca@inha.ac.kr.
authors.forename: Ji-Eun
authors.initials: JE
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D002864:Chromogranins; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D020335:Paraparesis / Q000150:complications*; D011547:Pseudohypoparathyroidism / Q000150:complications*; D056910:Republic of Korea; D013130:Spinal Stenosis / Q000150:complications*; D014910:Wheelchairs
chemical_list: D002864:Chromogranins; D018389:Codon, Nonsense; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs
keywords: Albright’s hereditary osteodystrophy; Children; G proteins; Pseudohypoparathyroidism Type Ia; Pseudopseudo-hypoparathyroidism; Spinal stenosis; paraparesis