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Rabson–Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation
Author(s) -
Mohanan Saritha,
Chandrashekar Laxmisha,
Semple Robert K.,
Thappa Devinder M.,
Parameswaran Narayanan,
Negi Vir S.,
Ramassamy Sivaranjini
Publication year - 2013
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4632.2012.05665.x
Subject(s) - medicine , insulin receptor , mutation , insulin resistance , phenotype , genetic disorder , genetics , pathology , insulin , biology , gene , disease
Rabson–Mendenhall syndrome (RMS) is an autosomal recessive disorder characterized by extreme insulin resistance and certain characteristic phenotypic features. The primary defect lies in the insulin receptor and involves biallelic mutations that lead to a loss of function through various postulated defects. We present a 9‐year‐old female patient with RMS complicated by multiple cerebral infarcts, in whom genetic analysis revealed a novel insulin receptor mutation.