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

Molecular syndromology

article

Mouskou, Stella¹  Leka-Emiri, Sofia²  Korona, Anastasia¹  Mastroyanni, Sotiria¹  Manolakos, Emmanouil³  Papoulidis, Ioannis³  Sekouris, Nick⁴  Katerelos, Adamantios⁵  Katsarou-Pectasides, Efstathia¹  Voudris, Konstantinos¹ 

[1] Department of Neurology;Department of Endocrinology-Growth and Development;Access To Genome, Clinical Laboratory Genetics;Department of Orthopedics, “KAT” General Hospital;Department of Neurology, “Karamandaneio” Children’s Hospital

关键词: ARID1B;    Coffin-Siris syndrome;    Dysmorphic facial features;    Fifth digit syndrome;    Growth hormone deficiency;    Short stature;   

DOI  :  10.1159/000522532

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Introduction: Coffin-Siris syndrome (CSS) (MIM #135900) is an extremely rare genetic multisystemic disorder characterized by aplasia or hypoplasia of the upper phalanx of the fifth finger, moderate to severe cognitive and/or developmental delay, and characteristic facial features (thick lashes, hypertrichosis of the trunk, sparse hair). Congenital anomalies of the brain, kidney, and heart have been described but are less consistent across patients. Case presentation:90-97th centile). Next-generation sequencing identified a mutation in the ARID1B 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.

【 授权许可】

CC BY