Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the < b > < i > ARID1B < /i > < /b > Gene in a Girl with Coffin-Siris Syndrome

We report a case of a 12-year-5-month-old girl with the clinical features of CSS, severe scoliosis, and epilepsy. Growth hormone deficiency was diagnosed at the age of 9 years. Recombinant human growth hormone (rhGH) treatment was started that resulted in a significant improvement of the growth velocity up to 5.4 cm/year (#x3e;90-97th centile). Next-generation sequencing identified a mutation in theARID1B gene.Discusion: Despite its phenotypic heterogeneity, key features of CSS have become clearer and along with molecular diagnosis, a further global approach to improve the care of these individuals is enabled. Appropriate therapies for this population are needed to optimize growth and intellectual potentials.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research