Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
Por:
Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny T, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM and Lacro RV
Publicada:
1 abr 2021
Ahead of Print:
1 ene 2021
Resumen:
SATB2-Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (Delta SAS) have been described in the literature. We describe 17 additional individuals with Delta SAS, review the phenotype of 33 previously published individuals with 2q33.1 deletions (n = 50, mean age = 8.5 +/- 7.8 years), and provide a comprehensive comparison to individuals with other molecular mechanisms that result in SAS (non-Delta SAS). Individuals in the Delta SAS group were often underweight for age (20/41 = 49%) with a progressive decline in weight (95% CI = -2.3 to -1.1, p < 0.0001) and height (95% CI = -2.3 to -1.0, p < 0.0001) Z-score means from birth to last available measurement. Delta SAS individuals were often noted to have a broad spectrum of facial dysmorphism. A composite image of Delta SAS individuals generated by automated image analysis was distinct as compared to matched controls and non-Delta SAS individuals. We also present additional genotype-phenotype correlations for individuals in the Delta SAS group such as an increased risk for aortic root/ascending aorta dilation and primary pulmonary hypertension for those individuals with contiguous gene deletions that include COL3A1/COL5A2 and BMPR2, respectively. Based on these findings, we provide additional care recommendations for individuals with Delta SAS variants.
Filiaciones:
Zarate YA:
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA
Bosanko KA:
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA
Thomas MA:
Departments of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
Miller DT:
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA
Cusmano-Ozog K:
Department of Pathology, Stanford University Medical Center, Stanford, CA, USA
Martinez-Monseny T:
Department of Clinical Genetics and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain
Curry CJ:
Genetic Medicine, Department of Pediatrics, University of California, Fresno, CA, USA
Graham JM Jr:
Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA
Velsher L:
North York General, Toronto, Canada
Bekheirnia MR:
Departments of Pediatrics and Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA
Seidel V:
Clinical Genetics, Department of Pediatrics, HGU Gregorio Marañón, Madrid, Spain
Dedousis D:
University Hospitals Center for Human Genetics, Cleveland, OH, USA
Mitchell AL:
University Hospitals Center for Human Genetics, Cleveland, OH, USA
DiMarino AM:
UH Rainbow Babies and Children's Hospital, Cleveland, OH, USA
Riess A:
Institute of Medical Genetics and Applied Genomics, Tuebingen, Germany
Balasubramanian M:
Sheffield Clinical Genetics Service, Sheffield, UK
Fish JL:
Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts
Caffrey AR:
Health Outcomes, College of Pharmacy, University of Rhode Island, Kingston, RI, USA
Fleischer N:
FDNA Inc, Boston, MA, USA
Pierson TM:
Departments of Pediatrics and Neurology & The Board of Governors Regenerative Medicine Institute, Cedars Sinai Medical Center, Los Angeles, CA, USA
Lacro RV:
Department of Cardiology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA
Green Accepted
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