Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

doi:10.1016/j.ajhg.2015.10.014

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Article

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

American journal of human genetics - 3 Dec 2015

Isrie Mala, Breuss Martin, Tian Guoling, Hansen Andi Harley, Cristofoli Francesca, Morandell Jasmin, Kupchinsky Zachari A, Sifrim Alejandro, Rodriguez-Rodriguez Celia Maria, Dapena Elena Porta, Doonanco Kurston, Leonard Norma, Tinsa Faten, Moortgat Stéphanie, Ulucan Hakan, Koparir Erkan, Karaca Ender, Katsanis Nicholas, Marton Valeria, Vermeesch Joris Robert, Davis Erica E, Cowan Nicholas J, Keays David Anthony, Van Esch Hilde

Abstract excerpt

Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short stature, and dysmorphic features. Here, we report that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the...

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Identifiers

PMID: 26637975
DOI: 10.1016/j.ajhg.2015.10.014
PMCID: PMC4678434

Genes

MAPRE2
TUBB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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