Limb disorders
Gene: TBX22Comment on list classification: Kept rating as Red: there is some evidence linking limb anomalies to TBX22 variants (PMID:21375406) but currently insufficient cases for inclusion on a diagnostic panel.Created: 11 Oct 2018, 10:41 a.m.
Abruzzo-Erickson syndrome (MIM:302905, reported by Abruzzo and Erickson in 1977, PMID:839509) includes radial synostosis (an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth). In affected family members (2 brothers and an uncle) with Abruzzo-Erickson syndrome, Pauws et al. 2013 (PMID:22784330) identified a -5T-A transversion in intron 3 (c.593-5T-A) of the TBX22 gene- a dactyly phenotype isn't mentioned by Pauws et al.Created: 11 Oct 2018, 9:45 a.m.
PMID:21375406 (Kaewkhampa, 2012) identified a hemizygous missense c.452G>T (p.Arg151Leu) variant in a 9 year old Thai boy who had unilateral complete cleft lip and palate and additional features including hypoplastic right thumb and clinodactyly of the fifth digits and the right index finger. In addition, he displayed carpal bone anomalies consisting of hypoplastic trapezoid, trapezium of the left hand, and shortness of the first proximal phalange and the first metacarpal. The trapezium and scaphoid of the right hand were absent. The authors say this is the first case of limb anomalies reported with TBX22 variant, and therefore the upper limb anomalies in the patient could be unrelated or limb anomalies may have been unascertained in previous patients.Created: 11 Oct 2018, 9:40 a.m.
Rebecca Foulger: PMID:21375406 (Kaewkhampa, 201
Gene: tbx22 has been classified as Red List (Low Evidence).
Publications for gene: TBX22 were set to 21375406; 839509
Gene: tbx22 has been classified as Red List (Low Evidence).
Publications for gene: TBX22 were set to
Phenotypes for gene: TBX22 were changed from Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis to Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis; upper limb anomalies; clinodactyly
Phenotypes for gene: TBX22 were changed from Polydactyly to Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis
Mode of inheritance for gene: TBX22 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
TBX22 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
TBX22 was created by Ellen McDonagh