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.
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Authors | Sang Heon Lee, Seung Hyeon Mun, Sung Yoon Cho, Yeo Ju Kim, Dong-Kyu Jin, Chang-Seok Ki, Ji-Eun Lee |
Journal | Annals of clinical and laboratory science
(Ann Clin Lab Sci)
Vol. 45
Issue 3
Pg. 344-7
( 2015)
ISSN: 1550-8080 [Electronic] United States |
PMID | 26116601
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2015 by the Association of Clinical Scientists, Inc. |
Chemical References |
- Chromogranins
- Codon, Nonsense
- GNAS protein, human
- GTP-Binding Protein alpha Subunits, Gs
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Topics |
- Adolescent
- Chromogranins
- Codon, Nonsense
(genetics)
- DNA Mutational Analysis
- GTP-Binding Protein alpha Subunits, Gs
(genetics)
- Heterozygote
- Humans
- Magnetic Resonance Imaging
- Male
- Mutation
(genetics)
- Paraparesis
(complications)
- Pseudohypoparathyroidism
(complications)
- Republic of Korea
- Spinal Stenosis
(complications)
- Wheelchairs
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