| H01579 | |
| H number | H01579 |
| Name | Congenital symmetric circumferential skin creases; Kunze-Riehm syndrome; Michelin tire baby syndrome |
| Description | Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described in 1969, then subsequent reports described variable additional features, such as intellectual disability (ID), facial dysmorphism, and cardiac and genital anomalies. It has been reported that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that bind to the guanosine triphosphate cap at growing microtubule plus ends, and TUBB encodes a beta-tubulin isotype that is expressed abundantly in the developing brain. |
| Category | Congenital malformation |
| Network | - |
| Gene | (CSCSC1) TUBB [HSA:203068] [KO:K07375] (CSCSC2) MAPRE2 [HSA:10982] [KO:K10436] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-10: Q82.8 MeSH: C537575 OMIM: 156610 616734 |
| Reference | PMID:21381593 AUTHORS Farooqi GA, Mulla SA, Ahmad M TITLE Michelin tire baby syndrome--a case report and literature review. JOURNAL J Pak Med Assoc 60:777-9 (2010) PMID:26637975 (TUBB, MAPRE2) AUTHORS Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H TITLE Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. JOURNAL Am J Hum Genet 97:790-800 (2015) DOI:10.1016/j.ajhg.2015.10.014 |