Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
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2015
- doi: 10.1038/srep17154
- issn: 2045-2322
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Diseases and hygiene Abnormities and deformities Deformities Family Family structure Families--Social aspects Families--Social conditions Family life Structure, Family Family relationships Relationships, Family Sickness Human beings--Diseases Morbidity Illness Sicknesses Illnesses Plants--Deformities Deformities in plants Abnormalities in plants Abnormalities (Plants) Botany--Teratology Abnormalities Malformations in animals Abnormalities (Animals) Animals--Malformations Animal abnormalities Animal malformations Zoology--Teratology Abnormalities in animals Deformities in animals Animals--Deformities Animal deformities Abnormalities Defects, Birth Malformations, Congenital Congenital anomalies Developmental abnormalities Congenital abnormalities Anomalies, Congenital Human abnormalities Deformities Birth defects AbnormalitiesCiter ce document
B. Royer-Bertrand et al., « Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. », Serveur académique Lausannois, ID : 10.1038/srep17154
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We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal, vertebral and ocular changes of CODAS but also included severe microtia, nasal hypoplasia, and other malformations, and for which we propose the name of EVEN-PLUS syndrome for epiphyseal, vertebral, ear, nose, plus associated findings. In three individuals from two families, no mutation in LONP1 was found; instead, we found biallelic mutations in HSPA9, the gene that codes for mHSP70/mortalin, another highly conserved mitochondrial chaperone protein essential in mitochondrial protein import, folding, and degradation. The functional relationship between LONP1 and HSPA9 in mitochondrial protein chaperoning and the overlapping phenotypes of CODAS and EVEN-PLUS delineate a family of "mitochondrial chaperonopathies" and point to an unexplored role of mitochondrial chaperones in human embryonic morphogenesis.