One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome

• Published in: Journal of clinical research in pediatric endocrinology 2018-06, Vol.10 (2), p.183-187
• Main Authors: Chen, Xiang, Wang, Huijun, Wu, Bingbing, Dong, Xinran, Liu, Bo, Chen, Hongbo, Lu, Yulan, Zhou, Wenhao, Yang, Lin
• Format: Article
• Language: English
• Subjects: Antigens, CD - genetics; Case Report; Case studies; China; Deoxyribonucleic acid; Diabetes; Diagnosis; DNA; Donohue syndrome; Donohue Syndrome - diagnosis; Donohue Syndrome - genetics; Gene mutation; Genetic testing; Humans; Hyperglycemia; Hypoglycemia; Infant, Newborn; Infant, Newborn, Diseases - diagnosis; Infant, Newborn, Diseases - genetics; Insulin resistance; Insulin-like growth factors; Kinases; Laboratories; Male; Mutation; Receptor, Insulin - genetics; Tıp
• ISSN: 1308-5727; 1308-5735
• DOI: 10.4274/jcrpe.5080

Mutations in the insulin receptor ( ) gene are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). Insulin resistance is a feature of both diseases. Our patient was a Chinese neonate suffering from abnormal glucose homeostasis, hyperinsulinemia, dry skin, heavy hair, growth retardation and an elevated testosterone level. To search for candidate point mutations, small insertions or deletions and copy number variants, 2742 inherited disease-gene panel sequencing was performed. One pathogenic mutation (c.3355C>T, p.Arg1119Trp) and a novel 2.43Kb deletion (chr19:7150507-7152938) in were found. The patient was diagnosed as RMS. Sanger sequencing and real-time quantitative polymerase chain reaction (PCR) confirmed the missense variant and microdeletion, respectively. We therefore supposed that these variants were candidate mutations in this case. We report a novel 2.43Kb deletion in gene and provide further proof of the power of next generation sequencing in rare disease diagnosis.