Defining the clinical phenotype of Saul-Wilson syndrome.,Genetics in Medicine

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Defining the clinical phenotype of Saul-Wilson syndrome.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2020-01-17 , DOI: 10.1038/s41436-019-0737-1
Carlos R Ferreira ₁ , Wadih M Zein ₂ , Laryssa A Huryn ₂ , Andrea Merker ₃ , Seth I Berger ₄ , William G Wilson ₅ , George E Tiller ₆ , Lynne A Wolfe ₇ , Melissa Merideth ₇ , Daniel R Carvalho ₈ , Angela L Duker ₉ , Heiko Bratke ₁₀ , Marte Gjøl Haug ₁₁ , Luis Rohena _{12,

13} , Hanne B Hove ₁₄ , Zhi-Jie Xia ₁₅ , Bobby G Ng ₁₅ , Hudson H Freeze ₁₅ , Melissa Gabriel ₁₆ , Alvaro H Serrano Russi ₁₆ , Lauren Brick ₁₇ , Mariya Kozenko ₁₇ , Dawn L Earl ₁₈ , Emma Tham _{19,

20} , Gen Nishimura ₂₁ , John A Phillips ₂₂ , William A Gahl ₇ , Rizwan Hamid ₂₂ , Andrew P Jackson ₂₃ , Giedre Grigelioniene _{19,

20} , Michael B Bober ₉

Affiliation

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Center for Genetic Medicine and Research, Children's National Hospital, Washington, DC, USA.
Department of Pediatrics, University of Virginia Health System, Charlottesville, VA, USA.
Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.
Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasília-DF, Brazil.
Division of Orthogenetics, Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA.
Department of Internal Medicine, Section of Paediatrics, Haugesund District Hospital, Fonna Health Trust, Haugesund, Norway.
Department of Medical Genetics, St. Olav's Hospital, Trondheim, Norway.
Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.
Department of Pediatrics, University of Texas Health Science Center, San Antonio, TX, USA.
Section of Rare Disorders, Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark.
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Division of Medical Genetics, Children's Hospital of Los Angeles, University of Southern California, Los Angeles, CA, USA.
Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, ON, Canada.
Division of Genetic Medicine, Seattle Children's, Seattle, WA, USA.
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

PURPOSE Four patients with Saul-Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. Hence, the clinical phenotype of the disease remains poorly defined. We address this shortcoming by providing a detailed characterization of its phenotype. METHODS Retrospective chart reviews were performed and primary radiographs assessed for all 14 individuals. Four individuals underwent detailed ophthalmologic examination by the same physician. Two individuals underwent gynecologic evaluation. Z-scores for height, weight, head circumference and body mass index were calculated at different ages. RESULTS All patients exhibited short stature, with sharp decline from the mean within the first months of life, and a final height Z-score between -4 and -8.5 standard deviations. The facial and radiographic features evolved over time. Intermittent neutropenia was frequently observed. Novel findings included elevation of liver transaminases, skeletal fragility, rod-cone dystrophy, and cystic macular changes. CONCLUSIONS Saul-Wilson syndrome presents a remarkably uniform phenotype, and the comprehensive description of our cohort allows for improved understanding of the long-term morbidity of the condition, establishment of follow-up recommendations for affected individuals, and documentation of the natural history into adulthood for comparison with treated patients, when therapeutics become available.

中文翻译：

定义 Saul-Wilson 综合征的临床表型。

目的 1982 年至 1994 年间报告了四名 Saul-Wilson 综合征患者，但直到 2018 年阐明了该疾病的分子病因时才描述了其他个体。因此，该疾病的临床表型仍然不明确。我们通过提供其表型的详细表征来解决这个缺点。方法对所有 14 人进行回顾性图表审查并评估主要 X 光片。四个人接受了同一位医生的详细眼科检查。两个人接受了妇科评估。在不同年龄计算身高、体重、头围和体重指数的 Z 分数。结果所有患者都表现出身材矮小，在出生后的头几个月内从平均值急剧下降，最终高度 Z 分数在 -4 和 -8.5 标准差之间。面部和放射学特征随着时间的推移而演变。经常观察到间歇性中性粒细胞减少症。新发现包括肝转氨酶升高、骨骼脆弱、视杆锥细胞营养不良和囊性黄斑改变。结当治疗方法可用时，与接受治疗的患者进行比较。新发现包括肝转氨酶升高、骨骼脆弱、视杆锥细胞营养不良和囊性黄斑改变。结当治疗方法可用时，与接受治疗的患者进行比较。新发现包括肝转氨酶升高、骨骼脆弱、视杆锥细胞营养不良和囊性黄斑改变。结当治疗方法可用时，与接受治疗的患者进行比较。

更新日期：2020-01-17

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