Abstract
Mutation in <i>PQBP1</i> is associated with periventricular heterotopia
Highlights
The presence of Periventricular heterotopia (PH) in one male and X-linked inheritance pattern further raised the possibility that FLNA might be the causal gene in this pedigree
Significant overlapping features between PQBP1 mutations and OPD/PH might suggest that the causal genes may share similar functions
Renpenning syndrome (RS) is characterized by mental retardation and microcephaly, lean body habitus, facial dysmorphism and short stature; each of these features is present in the current patient
Summary
The 23 year-old affected brother shared features similar to his sibling, including mental retardation, microcephaly, dysmorphic facies, hearing loss and short stature. The affected males and carrier mother were found to harbor an AGAG deletion at nucleotide 459–462 in exon four of the PQBP1 gene. Sequencing of the FLNA gene in this patient identified no exonic mutations.
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