Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia

Copy number variation of two separate regulatory regions upstream ofSOX9causes isolated 46,XY or 46,XX disorder of sex development

“…Translocation and inversion breakpoints of campomelic dysplasia (CD) cases with 46,XY DSD are indicated by vertical lines with an open circle, located on the basis of their remotest possible position with respect to SOX9 9 43 44. The 46,XX DSD translocation breakpoint is shown by a vertical line with a square 36.…”

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

“…). Genotype–phenotype associations defined by translocation breakpoint analysis are met by many patients, but three ACD patients (i.e., straight long bones) carry translocation breakpoints comprised between the CD and ACD BCRs (Ninomiya et al, ; Fonseca et al, ; Walters‐Sen et al, ). Our family showed a variable skeletal phenotype and harbors a deletion only including the PRS‐specific BCR.…”

“…PRS: Pierre Robin sequence. Included references: Amarillo et al, ; Benko et al, ; Bhagavath et al, ; De Gregori et al, ; Fonseca et al, ; Fukami et al, ; Gordon et al, ; Hill‐Harfe et al, ; Jakobsen et al, ; Jakubiczka et al, ; Jamshidi et al, ; Kim et al, ; Kwok et al, ; Lecointre et al, ; Ledig et al, ; Leipoldt et al, ; Lestner et al, ; Marquis‐Nicholson et al, ; Ninomiya et al, ; Pop et al, ; Sanchez‐Castro et al, ; Smyk et al, ; Velagaleti et al, ; Vergult et al, ; Walters‐Sen et al, ; White et al, . Excluded references for incomplete molecular details: Foster et al, ; Kwok et al, ; Pfeifer et al, ; Savarirayan and Bankier et al, ; Tommerup et al, ; Velagaleti et al, ; Wagner et al, ; Wirth et al, ; Wunderle et al, .…”

A mutation creating an upstream initiation codon in theSOX95′UTRcauses acampomelic campomelic dysplasia

“…) and one translocation (Walters‐Sen et al. ). Despite this large number of reported SOX9 mutations in ACD, the functional consequences of these mutations have only occasionally been tested experimentally.…”

“…The other report summarizes chromosomal rearrangements upstream and downstream of SOX9, with 13 and nine rearrangements reported for ACD and CD cases, respectively (Table 1; Fonseca et al 2013). Three additional ACD mutations have meanwhile been published, two missense mutations (Gopakumar et al 2014;Preiksaitiene et al 2016) and one translocation (Walters-Sen et al 2014). Despite this large number of reported SOX9 mutations in ACD, the functional consequences of these mutations have only occasionally been tested experimentally.…”