hrp0097rfc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Identification of novel genes including NAV2 associated with isolated tall stature

Weiss Birgit , Ott Tim , Vick Philipp , C. Lui Julian , Vogel Sebastian , Roeth Ralph , Waldmüller Stephan , Hoffmann Sandra , Baron Jeffrey , Wit jan-Maarten , Rappold Gudrun

Background: Very tall people attract a lot of attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth.Methods and Results: We studied a three-generation pedigree with several isolated (non-syndromic) tall members by whole exome sequencing; the tallest man had a height of 2...