Barber Say syndrome | |
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Other names | Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome |
Barber-Say syndrome has an autosomal dominant pattern of inheritance | |
Usual onset | Neonatal |
Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth ( hypertrichosis), fragile ( atrophic) skin, eyelid deformities ( ectropion), and an overly broad mouth ( macrostomia). [1]
Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome, which is also associated with dominant mutations in TWIST2. [2]
Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance. [3] Exome sequencing and expression studies have shown that BSS is caused by mutations in the TWIST2 gene that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic helix-loop-helix transcription factor that binds to E-box DNA motifs (5'-CANNTG-3') as a heterodimer and inhibits transcriptional activation. [4] Because TWIST2 mediates mesenchymal stem cell differentiation [5] and prevents premature or ectopic osteoblast differentiation, [6] mutations in TWIST2 that disrupt these functions by altering DNA-binding activity could explain many of the phenotypes of BSS. [2]
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The prevalence of Barber Say syndrome is less than 1 in 1,000,000. [7] As of 2017, only 15 cases have been reported in the literature. [8]
Barber Say syndrome | |
---|---|
Other names | Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome |
Barber-Say syndrome has an autosomal dominant pattern of inheritance | |
Usual onset | Neonatal |
Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth ( hypertrichosis), fragile ( atrophic) skin, eyelid deformities ( ectropion), and an overly broad mouth ( macrostomia). [1]
Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome, which is also associated with dominant mutations in TWIST2. [2]
Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance. [3] Exome sequencing and expression studies have shown that BSS is caused by mutations in the TWIST2 gene that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic helix-loop-helix transcription factor that binds to E-box DNA motifs (5'-CANNTG-3') as a heterodimer and inhibits transcriptional activation. [4] Because TWIST2 mediates mesenchymal stem cell differentiation [5] and prevents premature or ectopic osteoblast differentiation, [6] mutations in TWIST2 that disrupt these functions by altering DNA-binding activity could explain many of the phenotypes of BSS. [2]
This section is empty. You can help by
adding to it. (September 2021) |
The prevalence of Barber Say syndrome is less than 1 in 1,000,000. [7] As of 2017, only 15 cases have been reported in the literature. [8]