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12 Possible Causes for Mutation in the TWIST2 Gene, Rubbery Feel of the Nose and Chin

  • Setleis Syndrome

    feel of the nose and chin.[omim.org] No mutations in the TWIST2 gene were found, and there were no pathologic copy number abnormalities.[ncbi.nlm.nih.gov] The syndrome results from recessive mutations in the TWIST2 gene, encoding a basic helix-loop-helix transcription factor or de novo genomic duplication or triplication, which[ncbi.nlm.nih.gov]

  • B-Cell Chronic Lymphocytic Leukemia

    Indeed, TWIST2 is predominantly methylated in CLL patients with mutated IgVH genes.[dx.doi.org] Furthermore, a recent study pointed out that BTG4 and CD38 are frequently hypermethylated in CLL with a mutated IgVH gene [39].[dx.doi.org] Twist homolog 2 ( TWIST2, also known as Dermo-1 ) exhibits a differential methylation pattern relative to the IgVH mutational status.[dx.doi.org]

    Missing: Rubbery Feel of the Nose and Chin
  • Chronic Lymphocytic Leukemia

    Indeed, TWIST2 is predominantly methylated in CLL patients with mutated IgVH genes.[oadoi.org] Furthermore, a recent study pointed out that BTG4 and CD38 are frequently hypermethylated in CLL with a mutated IgVH gene [39].[oadoi.org] Twist homolog 2 ( TWIST2, also known as Dermo-1 ) exhibits a differential methylation pattern relative to the IgVH mutational status.[oadoi.org]

    Missing: Rubbery Feel of the Nose and Chin
  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    Girisha, KM and Bidchol, Abdul Mueed and Sarpangala, Murali Keshava and Satyamoorthy, K (2013) A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome.[eprints.manipal.edu]

    Missing: Rubbery Feel of the Nose and Chin
  • X-Linked Mandibulofacial Dysostosis

    Mutations in the TWIST2 gene may also be responsible for Setleis syndrome ( 227260 ).[disorders.eyes.arizona.edu] Mutations in the same TWIST2 domain but leading to substitutions of glutamine or alanine amino acids is responsible for the Barber-Say phenotype ( 209885 ).[disorders.eyes.arizona.edu] An amino acid substitution (lysine) in the basic domain of the TWIST2 gene has been found in seven families in which ablepharon-macrostomia followed an autosomal dominant[disorders.eyes.arizona.edu]

    Missing: Rubbery Feel of the Nose and Chin
  • Hypertrichosis

    Mutations in the TWIST2 gene have been found in 10 unrelated individuals with Barber-Say syndrome.[disorders.eyes.arizona.edu] TWIST2 mutations have also been found in Setleis syndrome ( 227260 ) and in ablepharon-macrostomia syndrome ( 200110 ).[disorders.eyes.arizona.edu]

    Missing: Rubbery Feel of the Nose and Chin
  • Leontiasis Ossium

    Genetics The genetic basis for this disorder seems to lie in heterozygous mutations in the TWIST2 gene (2q37.3).[disorders.eyes.arizona.edu] The TWIST2 mutation was not present in several unrelated probands suggesting there is some genetic heterogeneity.[disorders.eyes.arizona.edu]

    Missing: Rubbery Feel of the Nose and Chin
  • Ambiguous Genitalia

    Mutations in the TWIST2 gene may also be responsible for Setleis syndrome ( 227260 ).[disorders.eyes.arizona.edu] Mutations in the same TWIST2 domain but leading to substitutions of glutamine or alanine amino acids is responsible for the Barber-Say phenotype ( 209885 ).[disorders.eyes.arizona.edu] An amino acid substitution (lysine) in the basic domain of the TWIST2 gene has been found in seven families in which ablepharon-macrostomia followed an autosomal dominant[disorders.eyes.arizona.edu]

    Missing: Rubbery Feel of the Nose and Chin
  • Acute Mountain Sickness

    […] in the TWIST2 gene that affect a highly conserved residue of TWIST2 (twist-related protein 2).[en.m.wikipedia.org] […] eyebrows Absent eyelashes External ear abnormalities Alopecia Genetics Edit AMS is inherited in an autosomal dominant manner. [3] [4] Like Barber-Say syndrome, AMS is caused by mutations[en.m.wikipedia.org]

    Missing: Rubbery Feel of the Nose and Chin
  • Congenital Malformation Syndromes Affecting Facial Appearance

    […] in the TWIST2 gene that affect a highly conserved residue of TWIST2 (twist-related protein 2).[en.wikipedia.org] Ablepharon macrostomia syndrome is caused by mutations in the TWIST2 gene.[malacards.org] Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene.[figshare.com]

    Missing: Rubbery Feel of the Nose and Chin

Further symptoms