TY - GEN 
A1 - López Martín, Sara
AU - Albert, Jacobo
AU - Peña Vila-Belda, María del Mar
AU - Xian, Liu
AU - Zi-Chao, Zhang
AU - Junhai, Han
AU - Jiménez de Domingo, Ana
AU - Fernández Mayoralas, Daniel Martín
AU - Fernández Perrone, Ana Laura
AU - Fernández Jaén, Alberto
AU - Et al.
T1 - A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation
Y1 - 2022
UR - http://hdl.handle.net/11268/11353
AB - Mutations in the PQBP1 gene are associated with Renpenning syndrome (RENS1, MIM# 309500). Most cases are characterized by intellectual disability, but a detailed neuropsychological profile has not yet been established. The present case study of a 8.5 years-old male child with a missense novel mutation in the PQBP1 gene expands existing understanding of this syndrome by presenting a milder clinical and neuropsychological phenotype. Whole exome trio analysis sequencing revealed a maternally inherited PQBP1 missense mutation in chromosome X [NM_001032383.1, c.727C > T (p.Arg243Trp)]. Variant functional studies demonstrated a significant reduction in the interaction between PQBP1 and the component of the nuclear pre-mRNA splicing machinery, U5-15KD. A comprehensive neuropsychological assessment revealed marked deficits in processing speed, attention and executive functioning (including planning, inhibitory control and working memory) without intellectual disability. Several components of language processing were also impaired. These results support that this mutation partially disrupts the function of this gene, which is known to play critical roles in embryonic and neural development. As most of the genomic PQBP1 abnormalities associated with intellectual disability have been found to be loss-of-function mutations, we hypothesize that a partial loss-of-function of this variant is associated with a mild behavioral and neuropsychological phenotype.
KW - Enfermedad del sistema nervioso
KW - Genética humana
KW - Mutación
LA - eng
ER -