Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation

American Journal of Medical Genetics, Part A

Volumn 170, Issue 11, 2016, Pages 3028-3032

  Boone, Philip M ^a   Chan, Yiu Man ^b   Hunter, Jill V ^c   Pottkotter, Louis E ^c   Davino, Nelson A ^d   Yang, Yaping ^a   Beuten, Joke ^a   Bacino, Carlos A ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF TEXAS   (United States)

Author keywords

bone remodeling; Glass syndrome; osteoclastic activity; SATB2; tibial bowing

Indexed keywords

ALKALINE PHOSPHATASE; AMINO TERMINAL TELOPEPTIDE; BINDING PROTEIN; CALCITONIN; CALCIUM; CREATININE; FOLIC ACID; OSTEOCALCIN; PARATHYROID HORMONE; SPECIAL AT RICH SEQUENCE BINDING PROTEIN 2; UNCLASSIFIED DRUG; VITAMIN D; BIOLOGICAL MARKER; MATRIX ATTACHMENT REGION BINDING PROTEIN; SATB2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; ALLELE; ARTICLE; BLOOD LEVEL; BONE BOWING; BONE REMODELING; BONE TURNOVER; CASE REPORT; CLEFT PALATE; CREATININE URINE LEVEL; DISEASE ASSOCIATION; DYSPHAGIA; ENDOLYMPH; EXOME; EXON; FACE DYSMORPHIA; FEEDING DIFFICULTY; FRACTURE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MICROARRAY ANALYSIS; MUSCLE ATROPHY; MUSCLE HYPOTONIA; MYELIN DEFICIENCY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OSTEOMALACIA; OSTEOPENIA; OSTEOPOROSIS; PALATOPHARYNGEAL INCOMPETENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SATB2 GENE; SCOLIOSIS; SPASTICITY; STRABISMUS SURGERY; TYMPANOSTOMY TUBE; WESTERN EUROPEAN; X RAY; ZYGOSITY; ABNORMALITIES, MULTIPLE; BRAIN; FRAMESHIFT MUTATION; GENETICS; HAPLOINSUFFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BIOMARKERS; BONE REMODELING; BRAIN; EXONS; FRACTURES, BONE; FRAMESHIFT MUTATION; HAPLOINSUFFICIENCY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MATRIX ATTACHMENT REGION BINDING PROTEINS; OSTEOPOROSIS; PHENOTYPE; RADIOGRAPHY; SCOLIOSIS; TRANSCRIPTION FACTORS;

EID: 84978296452     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37847     Document Type: Article

References (15)

1. Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ, Friedman N, Moran R, Feret H, Zackai EH, Theisen A, Rosenfeld JA, Parker MJ. 2011. Case series: 2q33.1 microdeletion syndrome-further delineation of the phenotype. J Med Genet 48:290–298.
2. Boyce AM, Chong WH, Yao J, Gafni RI, Kelly MH, Chamberlain CE, Bassim C, Cherman N, Ellsworth M, Kasa-Vubu JZ, Farley FA, Molinolo AA, Bhattacharyya N, Collins MT. 2012. Denosumab treatment for fibrous dysplasia. J Bone Miner Res 27:1462–1470.
3. de Ravel TJ, Balikova I, Thiry P, Vermeesch JR, Frijns J-P. 2009. Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome. Eur J Med Genet 52:120–122.
4. Döcker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, Bartholdi D. 2014. Further delineation of the SATB2 phenotype. Eur J Hum Genet 22:1034–1039.
5. Gossai N, Hilgers MV, Polgreen LE, Greengard EG. 2015. Critical hypercalcemia following discontinuation of denosumab therapy for metastatic giant cell tumor of bone. Pediatr Blood Cancer 62:1078–1080.
6. Grasemann C, Schundeln MM, Hovel M, Schweiger B, Bergmann C, Herrmann R, Wieczorek D, Zabel B, Wieland R, Hauffa BP. 2013. Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease. J Clin Endocrinol Metab 98:3121–3126.
7. Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V. 2007. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat 28:732–738.
8. Leoyklang P, Suphapeetiporn K, Srichomthong C, Tongkobpetch S, Fietze S, Dorward H, Cullinane AR, Gahl WA, Huizing M, Shotelersuk V. 2013. Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. Hum Genet 132:1383–1393.
9. Lieden A, Kvarnung M, Nilssson D, Sahlin E, Lundberg ES. 2014. Intragenic duplication-a novel causative mechanism for SATB2-associated syndrome. Am J Med Genet Part A 164A:3083–3087.
10. Rosenfeld JA, Ballif BC, Lucas A, Spence EJ, Powell C, Aylsworth AS, Torchia BA, Shaffer LG. 2009. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS ONE 4:e6568.
11. Setsu N, Kobayashi E, Asano N, Yasui N, Kawamoto H, Kawai A, Horiuchi K. 2016. Severe hypercalcemia following denosumab treatment in a juvenile patient. J Bone Miner Metab 34:118–122.
12. US Food and Drug Administration. 2014a. Prescribing information − Prolia® (denosumab).
13. US Food and Drug Administration. 2014b. Prescribing information − Xgeva® (denosumab).
14. Zarate YA, Perry H, Ben-Omran T, Sellars EA, Stein Q, Almureikhi M, Simmons K, Klein O, Fish J, Feingold M, Douglas J, Kruer MC, Si Y, Mao R, McKnight D, Gibellini F, Retterer K, Slavotinek A. 2015. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet Part A 167A:1026–1032.
15. Zhao X, Qu Z, Tickner J, Xu J, Dai K, Zhang X. 2014. The role of SATB2 in skeletogenesis and human disease. Cytokine Growth Factor Rev 25:35–44.