Identification of a novel <i>EVC</i> variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

Huang, Xiangjun; Guo, Yi; Xu, Hongbo; Yang, Zhijian; Deng, Xiong; Deng, Hao; Yuan, Lamei

doi:10.1002/mgg3.885

Cited by 4 publications

(3 citation statements)

References 32 publications

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“…Additionally, this study reported other SD types, such as Ellis‐van Creveld syndrome, an autosomal recessive condition that is a rare prenatal hereditary SD. It is characterized by rhizomelic limb shortening, postaxial polydactyly of the hand, congenital heart defects, and ectodermal dysplasia of nails, teeth, and gums 35,36 . Prenatal ultrasound signs in this study included short and small long bones of the limbs, atrial septal defect, and upper alveolar cleft, but no evident polydactyly.…”

Section: Discussionmentioning

confidence: 91%

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Li,

Jin,

Liu

et al. 2024

J of Clinical Ultrasound

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ObjectiveTo analyze the value of prenatal ultrasound and molecular testing in diagnosing fetal skeletal dysplasia (SD).MethodsClinical data, prenatal ultrasound data, and molecular results of pregnant women with fetal SD were collected in the ultrasound department of our clinic from May 2019 to December 2021.ResultsA total of 40 pregnant women with fetal SD were included, with 82.5% exhibiting short limb deformity, followed by 25.0% with central nervous system malformations, 17.50% with facial malformations, 15% with cardiac malformations, and 12.5% with urinary system malformations. The genetic testing positive rate was 70.0% (28/40), with 92.8% (26/28) being single‐gene disorders due to mutations in FGFR3, COL1A1, COL1A2, EVC2, FLNB, LBR, and TRPV4 genes. The most common SD subtypes were osteogenesis imperfecta (OI), thanatophoric dysplasia (TD), and achondroplasia (ACH). The gestational age (GA) at initial diagnosis for TD, OI, and ACH was 16.6, 20.9, and 28.3 weeks, respectively (p < 0.05), with no significant difference in femoral shortening between the three groups (p > 0.05). Of the OI cases, 5 out of 12 had a family history.ConclusionShort limb deformity is the most prevalent phenotype of SD. When fetal SD is suspected, detailed ultrasound screening should be conducted, combined with GA at initial diagnosis, family history, and molecular evidence, to facilitate more accurate diagnosis and enhance prenatal counseling and perinatal management.

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Section: Discussionmentioning

confidence: 91%

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Li,

Jin,

Liu

et al. 2024

J of Clinical Ultrasound

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“…More than 80 EVC gene mutations have been reported in cases of EvC syndrome (Umair et al, 2017; Umair et al, 2019). The majority of the mutations produce premature termination codons, and are, therefore, predicted to lead to nonsense‐mediated mRNA decay, or truncated proteins (Huang et al, 2019; Tompson et al, 2006). Only a few in‐frame deletions or missense mutations have been reported.…”

Section: Discussionmentioning

confidence: 99%

An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

Zaka

Shahzad

Rao

et al. 2021

American J of Med Genetics Pt A

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Ellis-van Creveld (EvC) syndrome is an autosomal recessive disease, characterized by ectodermal, skeletal, and cardiac anomalies. We report intrafamilial phenotypic variability in three new EvC syndrome cases. Affected males in this study showed only ectodermal abnormalities, whereas an affected female showed the classical presentation of EvC Syndrome, including bilateral postaxial polydactyly of hands and feet, and congenital heart defects. Whole exome sequencing was performed to identify the causative variant, followed by validation and segregation analysis using Sanger sequencing. A homozygous deletion variant (c.731_757del) was identified in exon 6 of the EVC gene (NM_153717.2). The identified variant is considered to be the most likely candidate variant for the EvC syndrome in the family based on previous reports validating the role of EVC variants in the EvC syndrome. The disease correctly segregated in the family members, as all affected members were homozygous, and obligate carriers were heterozygous. Our family is remarkable in highlighting the variable expressivity of the EvC phenotype within the same family, due to a homozygous deletion mutation in the EVC gene. The variable expressivity might be due to the

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“…The exact prevalence of EVC is unknown and is estimated at approximately seven per million [ 6 ]. Some studies have reported the higher prevalence of the disease in Amish, Brazilians, Ashkenazi Jews, and Arab communities with high rates of consanguineous marriages [ 7 , 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Ellis–van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East

Baghianimoghadam

Arabzadeh

Fallah

2021

AML

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Introduction: Chondroectodermal dysplasia (Ellis–van Creveld syndrome (EVC)) (OMIM: #225500) is a rare skeletal dysplasia with unknown exact prevalence. EVC patients may have abnormal skeletal and extra skeletal symptoms. We report a case of EVC patient and review previous cases reported in Iran.Materials and methods: The patient was a 30 years old woman referred to our hand clinic for an extra finger in both hands. She was born to a consanguineous marriage. The patient had a history of bilateral valgus deformity of the knees, for which she underwent proximal tibial and distal femoral osteotomy. Upon examination, the patient had bilateral polydactyly and brachymetacarpia with hypotrophic fingernails. She was about 120 cm tall and had acromesomelic type dwarfism. Oral examination revealed serrated incisal margins, dental transposition, a diastema, conical teeth and, enamel hypoplasia. In the radiographic examination of upper extremity, postaxial polydactyly and polymetacarpia, enlarged distal radius, and fusion of capitate and hamate were seen. We searched online databases (Pubmed, Scopus, Google Scholar) and found 14 Iranian papers with 21 reported patients (there was no time limit). We reviewed available clinical and genetic data and the geographic origins of patients.Results: 14 articles reporting 22 EVC patients (including our patient) from Iran have been published in Persian and English (7 in Persian and 7 in English). All patients presented with characteristic EVC symptoms but were diagnosed at a relatively late age, 18 patients were born to consanguineous marriages.Conclusions: It seems that based on these studies, it is possible to identify some families with this genetic mutation. We can warn such families of the dangers of consanguineous marriage through genetic counseling before marriage. In addition, by identifying families with such problems, we can detect such anomalies in the baby earlier with more careful prenatal care.

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Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

Cited by 4 publications

References 32 publications

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

Ellis–van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East

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