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KMID : 0390320160260010079
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Chungbuk Medical Journal
2016 Volume.26 No. 1 p.79 ~ p.85
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Growth Hormone Response to a Patient with GH Deficient Kabuki Syndrome with Known KMT2D mutation
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Kim Je-Kyung
Kong Jin-Kyung
Han Heon-Seok
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Abstract
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Kabuki syndrome (KS) is a genetic syndrome with multiple malformation and distinctive dysmorphic face. The major causative genes with mutations are KMT2D and KDM6A, which act together epigenetically in embryogenesis and development. We experienced a patient with typical facial features of KS, developmental delays, atrial septal defect, skeletal anomalies, epilepsy, and progressive short stature caused by growth hormone deficiency. Genetic study revealed a known de novo nonsense mutation of KMT2D (c.C13450T:p.R4484X). After remarkable catch-up growth during the first year of growth hormone therapy, the growth velocity stabilized after the second year.
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KEYWORD
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Kabuki syndrome, Growth hormone deficiency, KMT2D mutation
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