Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

EVEN‐PLUS syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the mitochondrial chaperone called mortalin, encoded by HSPA9. This genetic disorder, presenting with several overlapping features with CODAS syndrome, is characterized by the involvement of the Epip...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022-09, Vol.188 (9), p.2819-2824
Main Authors: Pacio‐Miguez, Marta, Parrón‐Pajares, Manuel, Gordon, Christopher T., Santos‐Simarro, Fernando, Rodríguez Jiménez, Carmen, Mena, Rocio, Rueda Arenas, Inmaculada, F. Montaño, Victoria Eugenia, Fernández, María, Solís, Mario, Pozo, Ángela, Amiel, Jeanne, García‐Miñaur, Sixto, Palomares‐Bralo, María
Format: Article
Language:English
Subjects:
anorectal malformation
aplasia cutis
CODAS syndrome
Craniofacial Abnormalities - diagnosis
Craniofacial Abnormalities - genetics
Dysplasia
Epiphysis
EVE dysplasia
EVEN‐PLUS syndrome
Genetic disorders
Hereditary diseases
Homozygote
HSP70 Heat-Shock Proteins - genetics
HSPA9
Humans
Mitochondria
Mitochondrial Proteins - genetics
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - genetics
Phenotype
Phenotypes
Tooth Abnormalities
Vertebrae
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Summary:EVEN‐PLUS syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the mitochondrial chaperone called mortalin, encoded by HSPA9. This genetic disorder, presenting with several overlapping features with CODAS syndrome, is characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose (EVEN), PLUS associated findings. Only five individuals presenting with the EVEN‐PLUS phenotype and biallelic variants in HSPA9 have been published. Here, we expand the phenotypic and molecular spectrum associated with this disorder, reporting two sibs with a milder phenotype and compound heterozygous pathogenic variants (a recurrent variant and a novel one). Also, we confirm a homozygous pathogenic variant in the family originally reported as EVE dysplasia.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62883