1. Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

Iris Hollink, PhD 1 Majid Alfadhel, MD 2 Anwar Al-Wakeel, MD 2 Farough Ababneh 2 Rolph Pfundt, PhD 3 Stella A. de Man, MD 1, 4 Rami Abou Jamra, MD 5 Prof. Arndt Rolfs, MD 5, 6 Aida M. Bertoli-Avella, MD 5 Ingrid van de Laar, MD 1, 7
1 Erasmus Medical Center Rotterdam 2 King Saud bin Abdulaziz University for Health Sciences Riyadh 3 Radboud University Medical Centre Nijmegen 4 Amphia Hospital Breda 5 CENTOGENE AG 6 University of Rostock 7 Boston Children's Hospital
November 26, 2015

J Hum Genet. 2016 Mar;61(3):229-33. doi: 10.1038/jhg.2015.134. Epub 2015 Nov 26.

In 2012 Alazami et al. described a novel syndromic cause of primordial dwarfism with distinct facial features and severe intellectual disability. A homozygous frameshift mutation in LARP7, a chaperone of the noncoding RNA 7SK, was discovered in patients from a single consanguineous Saudi family. To date, only one additional patient has recently been described. To further delineate the phenotype associated with LARP7 mutations, we report two additional cases originating from the Netherlands and Saudi Arabia. The patients presented with intellectual disability, distinct facial features and variable short stature. We describe their clinical features and compare them with the previously reported patients.