Skip to main content

Advertisement

Table 2 Genetic information on the three participants included into this study

From: Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID

  Sex Diagnosis Rearrangement Aa change Inheritance Reference
P1 M ASD/ID c.1527G > A p.W509X De novo Soorya et al. 2013 [17]
P2 M ID c.2497delG p.P834RfsX58 De novo Soorya et al. 2013 [17]
P3 M ASD/ID c.5008A > T p.K1670X Not from mother This study