A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum |
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| Affiliation: | 1. Department of Genetics and Metabolism, The Children''s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Hangzhou, 310003, China;2. Key Laboratory for Biomedical Engineering of Education Ministry, Zhejiang University, Hangzhou, 310027, China;3. Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY, 14642, USA;1. Institute of Human Genetics, University of Leipzig, Leipzig, Germany;2. Heinrich-Heine-University, Medical Faculty, Department of Diagnostic and Interventional Radiology, Düsseldorf, Germany;3. Heinrich-Heine-University, Medical Faculty, Institute of Human Genetics, Düsseldorf, Germany;4. Heinrich-Heine-University, Medical Faculty, Center of Rare Disorders, Düsseldorf, Germany;1. The Division of Clinical Genetics and Genomics Laboratories, Children''s Mercy Hospital Kansas City, Kansas City, MO, 64108 USA;2. University Missouri-Kansas City School of Medicine, Kansas City, MO, 64108, USA;3. Department of Pediatrics, Nationwide Children''s Hospital, Columbus, OH, 43205, USA;4. Cytogenetics and Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Nationwide Children''s Hospital, Columbus, OH, 43205, USA;5. Center for Molecular and Human Genetics, The Research Institute at Nationwide Children''s Hospital, Columbus, OH, 43205, USA;6. The Ohio State University College of Medicine, Columbus, OH, 43210, USA;1. Division of Medical Genetics, Department of Medicine, McGill University Health Centre, Montreal, QC, Canada;2. Department of Pediatric Pathology and Cytogenetics, McGill University Health Centre, Montreal, QC, Canada;3. Division of Nephrology, Department of Pediatrics, McGill University Health Centre, Montreal, QC, Canada;4. Hypertension and Vascular Research, Wake Forest School of Medicine, Winston-Salem, NC, USA;5. Department of Genetics, Necker Hospital, Paris, France |
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| Abstract: | Only eleven SPECC1L mutations have been reported worldwide which were associated with autosomal dominant oblique facial clefts, Opitz G/BBB Syndrome and Teebi hypertelorism syndrome. In this study, we reported the first Chinese patient with Teebi hypertelorism syndrome. Utilizing whole exome sequencing and Sanger sequencing, we identified a de novo missense mutation NM_015330.3: c.1249A > C, p.(Thr417Pro) in SPECC1L gene. With common manifestations in Teebi hypertelorism syndrome such as special facial appearance, umbilical malformations and congenital heart defects, the patient also had unusual symptoms including recurrent infections, febrile seizures and widely opened anterior fontanelle. Furthermore, all the recorded SPECC1L mutations were analyzed by in silico analysis. Coiled-coil domain 2 was the most frequently mutated domain and positions e and g might be more important than other positions. This paper expanded the phenotypic spectrum of Teebi hypertelorism syndrome and elaborated molecular characteristics of SPECC1L mutations. |
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| Keywords: | Teebi hypertelorism syndrome Opitz G/BBB syndrome Coiled-coil domains |
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