Postural and Gait Abnormality in Even-Plus Syndrome

Nagrani, DG; Kurniawan, Ade; Wahyuni, Luh Karunia; Xavier, BC; Furga, AS; Sjarif, Damayanti Rusli

doi:10.4172/1747-0862.1000350

Cited by 4 publications

(9 citation statements)

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Section: Discussionsupporting

confidence: 74%

“…The features of our patient with EVEN-PLUS syndrome closely resemble those identified by Royer-Bertrand et al (2015) and Nagrani et al (2018) (Figures 1 and 2; Table 1). All five of these patients had synophrys, hypoplastic or dysplastic ears, a hypoplastic nasal bone, triangular nares, dysplastic femoral heads, bifid distal femurs, and biallelic variants in the HSPA9 gene (Nagrani et al, 2018;Royer-Bertrand et al, 2015). Features described in four of the five patients include congenital heart defects, vertebral clefting, dysplastic acetabula, dysplastic epiphyses at the knee, and short stature (Nagrani et al, 2018;Royer-Bertrand et al, 2015).…”

Section: Discussionsupporting

confidence: 74%

“…All five of these patients had synophrys, hypoplastic or dysplastic ears, a hypoplastic nasal bone, triangular nares, dysplastic femoral heads, bifid distal femurs, and biallelic variants in the HSPA9 gene (Nagrani et al, 2018;Royer-Bertrand et al, 2015). Features described in four of the five patients include congenital heart defects, vertebral clefting, dysplastic acetabula, dysplastic epiphyses at the knee, and short stature (Nagrani et al, 2018;Royer-Bertrand et al, 2015). Imperforate anus or anal stenosis, hip dislocation, laterally dislocated patella, and underossification are features described in three of five patients (Nagrani et al, 2018;Royer-Bertrand et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

“…T A B L E 1 Comparison of clinical features and HSPA9 variants between the reported patient with EVEN-PLUS syndrome and those reported by Royer-Bertrand et al (2015) and Nagrani et al (2018) Body system Features One microgram of total RNA was reverse-transcribed with the high capacity RNA-to-cDNA Kit (Thermo Scientific, Waltham, MA). qRT-PCR was performed using commercial predesigned Taqman® probes located in exons 14-15 in the HSPA9 coding sequence (Hs00945578_g1): a probe for the gene POLR2A Hs05645071_s1was used for normalization (Thermo Fisher Scientific, Waltham, MA).…”

Section: Additionally Qpcr Analysis Supports the Loss Of Function Hspa9mentioning

confidence: 99%

“…Following the study by Royer-Bertrand et al (2015), a fourth patient with EVEN-PLUS syndrome was reported with many of the characteristic features in addition to a laterally dislocated patella leading to scoliosis, leg-length discrepancy, and an abnormal gait (Nagrani et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

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EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction

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Vetrini

Weaver

et al. 2020

American J of Med Genetics Pt A

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EVEN-PLUS syndrome is a rare condition characterized by its involvement of the Epiphyses, Vertebrae, Ears, and Nose, PLUS other associated findings. We report here the fifth case of EVEN-PLUS syndrome with novel variants c.818 T > G (p.L273X) and c.955C > T (p.L319F) in the HSPA9 gene identified through wholeexome sequencing. The patient is the first male known to be affected and presented with additional features not previously described with EVEN-PLUS syndrome. These features include agenesis of the septum pellucidum, a short chest and sternum, 13 pairs of ribs, a single hemivertebra, laterally displaced nipples, hydronephrosis, unilateral cryptorchidism, unilateral single palmar crease, bilateral clubfoot, and hypotonia. qPCR analysis provides supporting evidence for a nonsense-mediated decay mechanism for the HSPA9 truncating variant. In silico 3D modeling supports the pathogenicity of the c.955C > T (p.L319F) missense variant. The study presented here further describes the syndrome and broadens its mutational and phenotypic spectrum. Our study also lends support to HSPA9 variants as the underlying etiology of EVEN-PLUS syndrome and ultimately provides a better understanding of the molecular basis of the condition.

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Section: Discussionsupporting

confidence: 74%

Section: Discussionsupporting

confidence: 74%

Section: Discussionmentioning

confidence: 99%

Section: Additionally Qpcr Analysis Supports the Loss Of Function Hspa9mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction

Younger

Vetrini

Weaver

et al. 2020

American J of Med Genetics Pt A

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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

Pacio‐Míguez

Parrón‐Pajares

Gordon

et al. 2022

American J of Med Genetics Pt A

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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.

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A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review

Liu,

Li,

Ren

et al. 2024

Molec Gen & Gen Med

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BackgroundEpiphyseal, Vertebral, Ear, and Nose (EVEN)‐PLUS syndrome is a rare condition characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose, plus other associated findings, due to pathogenic variants in the HSPA9 gene. Due to the sparse number of patients, the clinical phenotypic spectrum is not clear.MethodsWe report two patients with pathogenic HSPA9 variants from a Chinese family. Besides the core clinical features of EVEN‐PLUS syndrome, the two cases had seizures, developmental delay, and basal ganglia lesions in cerebral MRI. We also reviewed the previously published reports of patients with biallelic pathogenic HSPA9 variants.ResultsTogether with the presented cases, 12 cases (9 females) were identified from 6 relevant research items for analysis. All patients had synophrys or arched eyebrows, hypoplastic or dysplastic ears, hypoplastic nasal bone, and dysplastic femoral head. Other specific craniofacial features (such as triangular nares), abnormal skeletal presentations (such as bifid femur, dysplastic epiphyses at the knee, dysplastic acetabula, delayed ossification, short stature, vertebral clefting, scoliosis, and dislocated patellae), congenital heart defects, and renal alterations are common clinical features. Two patients had seizures and basal ganglia lesions in cerebral MRI. Infrequent features, such as aplasia cutis, short thorax and sternum, and widely spaced nipples, are also observed in the syndrome. Thirteen variants associated with EVEN‐PLUS syndrome have been reported.ConclusionsHSPA9 gene mutations should be suspected in all cases with specific craniofacial features, abnormal skeletal presentations, congenital heart defects, and renal alterations. Seizures and basal ganglia lesions are a new phenotype of EVEN‐PLUS syndrome.

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Postural and Gait Abnormality in Even-Plus Syndrome

Cited by 4 publications

References 0 publications

EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction

EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction

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

A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review

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