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Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27.

Bone health and SATB2-associated syndrome.

Author information

1
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
2
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
3
Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, Vancouver, Canada.
4
Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, Maine.
5
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
6
Department of Genetics, Great Ormond Street for Children NHS Foundation Trust, London, UK.
7
Department of Endocrinology, Great Ormond Street for Children NHS Foundation Trust, London, UK.
8
Department of Pediatrics, Royal National Orthopaedic Hospital NHS Trust, London, UK.
9
Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.
10
Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
11
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
12
Department of Pediatrics, University of British Columbia, Vancouver, Canada.
13
Department of Pediatrics and Clinical Genetics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
14
North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.
15
Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Abstract

SATB2-associated syndrome (SAS) is a rare disorder caused by alterations in the special AT-rich sequence-binding protein 2 (SATB2). Skeletal abnormalities such as tibial bowing, osteomalacia, osteopenia or osteoporosis have been reported suggesting a higher frequency of skeletal complications in SAS. The optimal timing, necessity, and methodology for routine assessment of bone health in individuals with SAS, however, remain unclear. We report molecular and phenotypic features of 7 individuals with SAS documented to have low bone mineral density (BMD) ascertained by dual-energy X-ray absorptiometry (DXA), often preceded by tibial bowing. The lowest BMD Z-scores ranged -2.3 to -5.6. In 4 individuals, total alkaline phosphatase levels were elevated (2 with elevated bone fraction) around the time of low BMD documentation. A clinically significant fracture history and a diagnosis of pediatric osteoporosis were present in 4 individuals. Pamidronate treatment in 2 children improved BMD. In conclusion, low BMD, fractures, and tibial bowing are relatively common skeletal complications in individuals with SAS. DXA is a useful tool when evaluating a child with SAS suspected to have low BMD and the results might alter clinical management.

KEYWORDS:

SATB2; Pamidronate; bone density; osteopenia

PMID:
28787087
DOI:
10.1111/cge.13121

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