Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics
| Autor: | Shu Liu, Zhiqing Wang, Weihong Zeng, Sisi Wei, Jianhui Jiang, Qingshan Hong, Xianqiong Luo, Jinqun Liang, Ye Zhang, Haimei OuYang, Nuan Chen |
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| Rok vydání: | 2019 |
| Předmět: |
Male
Models Molecular Pathology medicine.medical_specialty Heterozygote Endocrinology Diabetes and Metabolism Hearing Loss Sensorineural Ubiquitin-Protein Ligases Prenatal diagnosis Nose Compound heterozygosity Anus Imperforate 03 medical and health sciences 0302 clinical medicine Gene Frequency Hypothyroidism Ectodermal Dysplasia Intellectual Disability medicine Humans Exome Exocrine pancreatic insufficiency Physical Examination Exome sequencing Growth Disorders Ultrasonography Hereditary pancreatitis Hepatology business.industry Gastroenterology Genetic disorder Pancreatic Diseases Aplasia medicine.disease Johanson–Blizzard syndrome Adipose Tissue Pancreatitis 030220 oncology & carcinogenesis Child Preschool 030211 gastroenterology & hepatology business Tomography X-Ray Computed |
| Zdroj: | Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]. 20(3) |
| ISSN: | 1424-3911 |
| Popis: | Johanson–Blizzard Syndrome (JBS) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, distinct abnormal facial appearance and varying degrees of growth retardation. Variants in UBR1 gene are considered to be responsible for the syndrome. Here, we describe a 3-year old boy, who visited our clinic for severe growth retardation and frequent oily diarrhea. The physical examination revealed nasal alae aplasia, scalp defect, and maldescent of left testicle. Transabdominal ultrasound and computed tomography scan of his abdomen demonstrated complete fatty replacement of the pancreas. The clinical, laboratory, and imaging findings strongly suggest the diagnosis of hereditary pancreatitis. Whole exome sequencing revealed two rare compound heterozygous variants, c.2511T > G (p.H837Q) and c.1188T > G (p.Y396X), in the UBR1 gene of this boy, so, the diagnosis of JBS was established. This is the first report of Chinese patient with JBS, and our study indicates that transabdominal ultrasound and computed tomography are two useful and noninvasive imaging methods for the diagnosis and evaluation of JBS, and identification of these two novel variants expands the database of UBR1 gene variants. Furthermore, with the availability of the identification technology for these variants, prenatal diagnosis could be offered for future pregnancies. |
| Databáze: | OpenAIRE |
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