Triphalangeal thumb-polysyndactyly syndrome

Definition:

Triphalangeal thumb (TPT) is a rare human hand-foot malformation characterized by a long, finger-like thumb with three phalanges. It can occur either in isolated form or in association with other defects such as triphalangeal thumb-polydactyly syndrome (TPT-PS). TPT is caused by defects in a cis-regulatory sequence ZRS, located in intron 5 of LMBR1, which is crucial for expression of sonic hedgehog (SHH) during limb development.

References:

[1]. Jerzy Gosk, et al. Rare triphalangeal thumb polydactyly: a case report. J Plast Reconstr Aesthet Surg. 2011 Jun;64(6):e165-6. [Content Brief]

[2]. Laura A Lettice, et al. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet. 2003 Jul 15;12(14):1725-35. [Content Brief]

[3]. Muhammad Farooq, et al. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet. 2010 Jun;18(6):733-6. [Content Brief]

[4]. Zhi-Qiang Wang, et al. A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. Biochem Biophys Res Commun. 2007 Apr 6;355(2):312-7. [Content Brief]

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