Variability in a three‐generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16

ConclusionThe identified deletion was smaller than all other chromosome rearrangements associated with ACD. Comparison with other reported translocations and deletions involving this region allowed further refining of genotype–phenotype correlations and an update of the smallest regions of overlap associated with the different phenotypes. Intrafamilial variability in this pedigree suggests a phenotypic continuity between ACD and PRS in patients carrying mutations in the SOX9 5′ regulatory region. Birth Defects Research (Part A), 2015. © 2015 Wiley Periodicals, Inc.

Source: Birth Defects Research Part A: Clinical and Molecular Teratology - November 1, 2015 Category: Perinatology & Neonatology Authors: Marco Castori, Irene Bottillo, Silvia Morlino, Chiara Barone, Piero Cascone, , Paola Grammatico, Luigi Laino Tags: Brief Report Source Type: research