Review
Genetics & Heredity
Flaminia Pugnaloni, Roberta Onesimo, Rita Blandino, Carolina Putotto, Paolo Versacci, Angelica Bibiana Delogu, Chiara Leoni, Valentina Trevisan, Ileana Croci, Federica Cali, Maria Cristina Digilio, Giuseppe Zampino, Bruno Marino, Giulio Calcagni
Summary: Chromosome 9p deletion syndrome is a rare autosomal dominant disorder associated with a wide range of clinical features, including congenital heart defects. A study was conducted on a cohort of 10 patients with confirmed 9p deletion syndrome, and it was found that even patients without major heart defects may exhibit subclinical cardiac structural changes and dysfunction. These findings emphasize the importance of comprehensive cardiac assessment and long-term follow-up in patients with 9p deletion syndrome.
Article
Genetics & Heredity
Marion Aubert-Mucca, Celine Huber, Genevieve Baujat, Caroline Michot, Mohammed Zarhrate, Marc Bras, Lucile Boutaud, Valerie Malan, Tania Attie-Bitach, Valerie Cormier-Daire
Summary: We analyzed 50 clinically identified EVC cases from 45 families to further understand the EVC phenotype and its molecular basis. Our study confirmed the major role of EVC and EVC2 genes in EVC syndrome and identified previously unreported copy number variations. We also found a high proportion of heterozygous deletions in EVC/EVC2, mostly inherited from the mother, possibly resulting from recombinations involving Alu sequences.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Nancy Negrete-Torres, Maria del Carmen Chima-Galan, Ernesto Antonio Sierra-Lopez, Janet Sanchez-Ramos, Isela Alvarez-Gonzalez, Julia Reyes-Reali, Maria Isabel Mendoza-Ramos, Efrain Garrido-Guerrero, Dante Amato, Claudia Fabiola Mendez-Catala, Glustein Pozo-Molina, Adolfo Rene Mendez-Cruz
Summary: By conducting genetic testing and structural prediction on two Mexican patients, two EVC2 gene mutations associated with Ellis-van Creveld syndrome were identified, expanding the mutation spectrum of EVC2 and providing new insights into the diagnosis and treatment of the disease.
Article
Genetics & Heredity
Jie Wang, Xiaohua Wang, Yueqi Jia, Xiangnan Li, Guohui Liu, Rula Sa, Haiquan Yu
Summary: We reported the earliest case of Ellis-van Creveld syndrome diagnosed with a splicing variant and provided a detailed description of the abnormal splicing effect. This study expands the spectrum of EVC mutations and demonstrates the importance of whole-exome sequencing in the clinical diagnosis of diseases with genetic heterogeneity.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Endocrinology & Metabolism
Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang
Summary: 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. This study analyzed 15 patients from three families and found that different phenotypes were caused by different CYP21A2 mutations. Gender and mutation type influence the phenotypes, and genetic analysis can aid in the diagnosis of atypical 21-hydroxylase deficiency patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Dermatology
Mohammadreza Ghassemi, Azadeh Goodarzi, Farnoosh Seirafianpour, Samaneh Mozafarpoor, Elham Ziaeifar
Summary: This study reports on a 40-year-old woman from Iran with Ellis van Creveld syndrome, characterized by a wide range of multisystem abnormalities including facial coarseness, dental anomalies, various malformations, visceral abnormalities, and skeletal deformities.
DERMATOLOGIC THERAPY
(2021)
Article
Dentistry, Oral Surgery & Medicine
Lucas Fernando Oliveira Tomaz Ferraresso, Fabio Anevan Ubiski Fagundes, Mariella Padovese, Paola Singi, Mayra Frasson Paiva, Luciana Tiemi Inagaki-Nomura, Cassia Cilene Dezan-Garbelini, Farli Aparecida Carrilho Boer
Summary: This case report describes a 6-year-old Brazilian boy with Ellis-van Creveld (EVC) syndrome who exhibited rare oral lesions and multiple dental abnormalities. The oral findings included enamel hypoplasia, teeth agenesis, conical teeth, lower canine rotation, bilateral posterior crossbite, taurodontism, delayed tooth eruption, dental caries, and a peripheral odontogenic fibroma (POF). The pediatric dentist plays a crucial role in the clinical follow-up, planning, and preventive and rehabilitative treatment due to the characteristic oral features of EVC syndrome and the potential for POF recurrence.
SPECIAL CARE IN DENTISTRY
(2023)
Article
Dermatology
Weilong Zhong, Linghan Hu, Xu Cao, Jiahui Zhao, Xianning Zhang, Mingyang Lee, Huijun Wang, Jie Zhang, Quan Chen, Cheng Feng, Lina Duo, Xiuli Wang, Li Tang, Zhimiao Lin, Yong Yang
Summary: The study identified new and recurrent variations in the TRPV3 gene in patients with Olmsted syndrome, finding that variations in specific regions of the gene significantly enhance channel function and lead to severe phenotypes, while other variations have milder effects.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
D. I. R. Choudhury, Saikat DasGupta, Mauin Uddin, Siddhartha Shankar Howlader, P. K. Chanda, A. T. M. Khalilur Rahman, Farooque Ahmed
Summary: EVC syndrome is a rare autosomal recessive disorder, with symptoms including short stature, dental deformities, and cardiac abnormalities. This case report presents a patient with ASD and moderate mitral regurgitation who underwent surgical repair.
HEART SURGERY FORUM
(2021)
Review
Urology & Nephrology
Ryota Suzuki, Nana Sakakibara, Yuta Ichikawa, Hideaki Kitakado, Chika Ueda, Yu Tanaka, Eri Okada, Atsushi Kondo, Shinya Ishiko, Shingo Ishimori, China Nagano, Tomohiko Yamamura, Tomoko Horinouchi, Takayuki Okamoto, Kandai Nozu
Summary: This study systematically reviewed LAMB2-associated diseases, characteristics of LAMB2 nephropathy, and genotype-phenotype correlations, revealing a diversity of disease phenotypes and their associations with different gene variants.
KIDNEY INTERNATIONAL REPORTS
(2023)
Article
Genetics & Heredity
Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen
Summary: This study identified pathogenic gene variations associated with Ellis-van Creveld syndrome in fetuses with ultrasound anomalies using whole exome sequencing, providing valuable insights for genetic diagnosis.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Medicine, General & Internal
Sana Asif, Akeel Ahamed Salahudeen, Ghazanfer Nadeem, Abdul Sattar
Summary: Ellis-Van Creveld Syndrome (EVC) is a rare genetic disorder caused by mutations in two genes, resulting in chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. This case report underscores the importance of multidisciplinary management for better outcomes and increased awareness among medical professionals.
JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION
(2023)
Review
Genetics & Heredity
Davis C. Thomas, Janani Dakshina Moorthy, Vaishnavi Prabhakar, Ahana Ajayakumar, Priyanka Kodaganallur Pitchumani
Summary: Ellis-van Creveld syndrome is a genetic disorder caused by mutations in the EVC and EVC2 genes, leading to abnormalities in ciliary function and Hedgehog signaling, resulting in severe craniofacial tissue abnormalities. Recent research has highlighted the significant role of primary cilia in craniofacial development.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2022)
Article
Ophthalmology
Alejandra Daruich, Matthieu P. Robert, Camille Leroy, Nathalie de Vergnes, Caroline Beugnet, Valerie Malan, Sophie Valleix, Dominique Bremond-Gignac
Summary: This study aimed to investigate the correlation between the degree of foveal hypoplasia in congenital aniridia and visual acuity, iris phenotype, and PAX6 mutations. Through analysis of imaging and genetic data, it was found that PAX6 gene mutations were associated with severe foveal hypoplasia, while deletions restricted to the 3rd regulatory region of PAX6 may result in better visual prognosis. The degree of foveal hypoplasia was found to be correlated with the severity of iris defects.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Genetics & Heredity
Ayesha Zaka, Shaheen Shahzad, Hadi Zahid Rao, Sadia Kanwal, Asma Gul, Sulman Basit
Summary: This study reports intrafamilial phenotypic variability in three new cases of Ellis-van Creveld (EvC) syndrome, with affected males showing only ectodermal abnormalities and an affected female showing classical EvC syndrome presentation. A homozygous deletion variant in the EVC gene was identified as the most likely cause in the family, and disease segregation was observed correctly within the family members. The variable expressivity of the EvC phenotype in this family highlights the importance of genetic factors in the presentation of the syndrome.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Lazaros Kochilas
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2020)
Article
Genetics & Heredity
Karthik Muthusamy, Christian Hanna, Derek R. Johnson, Carl H. Cramer, Peter J. Tebben, Sharon E. Libi, Gayla L. Poling, Brendan C. Lanpher, Eva Morava, Lisa A. Schimmenti
Summary: BORSD is a rare genetic disorder characterized by ear and renal abnormalities, with most patients having pathogenic variations in the EYA1 gene. An infant with a heterozygous pathogenic variation in EYA1 gene from the father experienced low blood sugar due to growth hormone deficiency, which improved with growth hormone therapy. The presence of pituitary abnormalities in this patient suggests a potential link between BORSD and growth hormone deficiency.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Biographical-Item
Genetics & Heredity
Elizabeth I. Pierpont, Susan A. Berry, Angela E. Lin, Jamie L. Lohr, Lisa A. Schimmenti, William B. Dobyns
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Cardiac & Cardiovascular Systems
Bahaaldin Alsoufi, Jessica H. Knight, James St Louis, Geetha Raghuveer, Lazaros Kochilas
Summary: The study found that aortic valve replacement in young children presents technical difficulties and potential risks. Mechanical prostheses are less commonly used compared to the Ross operation. Although there were no significant differences in hospital mortality and 15-year transplant-free survival between Ross and MP recipients, long-term follow-up revealed lower survival rates in the MP group, with a higher need for redo aortic valve replacement.
ANNALS OF THORACIC SURGERY
(2022)
Article
Pediatrics
Jennifer K. Peterson, Lazaros K. Kochilas, Jessica Knight, Courtney McCracken, Amanda S. Thomas, James H. Moller, Shaun P. Setty
Summary: This study evaluated the long-term transplant-free survival and causes of death in patients with trisomy 21 (T21) after surgery for congenital heart disease (CHD), comparing them with euploidic patients. The results showed that CHD-related mortality for patients with T21 after cardiac surgical intervention is comparable with euploidic comparators. Children with T21 require lifelong surveillance for co-occurring conditions associated with their chromosomal abnormality.
JOURNAL OF PEDIATRICS
(2021)
Article
Cardiac & Cardiovascular Systems
Hani Siddeek, Scott Lunos, Amanda S. Thomas, Courtney McCracken, Julia Steinberger, Lazaros Kochilas
Summary: TOF-APV is a rare form of tetralogy with high in-hospital mortality, but long-term survival post-repair is similar to simple TOF.
AMERICAN JOURNAL OF CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Amanda S. Thomas, Alice Chan, Bahaaldin Alsoufi, Jeffrey M. Vinocur, Lazaros Kochilas
Summary: This study examined the outcomes of children who underwent ALCAPA surgery. The results showed that coronary artery reimplantation had a positive impact on long-term survival, and performing MV surgery for moderate/severe MR reduced the risk of in-hospital mortality. However, the severity of MR was not associated with in-hospital or longer-term outcomes.
ANNALS OF THORACIC SURGERY
(2022)
Article
Pediatrics
Sabikha Alam, J'Neka S. Claxton, Michael Mortillo, Leandros Sassis, Pelagia Kefala-Karli, Michael Silberbach, Lazaros Kochilas, Stephanie Burns Wechsler
Summary: Long-term survival rates in Turner syndrome patients after congenital heart surgery for LHOLs are comparable to nonsyndromic counterparts, but they still have increased risk of cardiovascular disease morbidity.
JOURNAL OF PEDIATRICS
(2021)
Article
Genetics & Heredity
Stephanie L. Safgren, Rory J. Olson, Filippo Pinto e Vairo, Erick D. Bothun, Christian Hanna, Eric W. Klee, Lisa A. Schimmenti
Summary: This case presents a patient with multiple systemic defects, with a loss of function variant identified in association with PBX1 through genetic testing. Research suggests that PBX1 is related to eye development, possibly explaining the patient's presentation of glaucoma.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Cardiac & Cardiovascular Systems
Andrew Tran, Lazaros Kochilas, Amanda S. Thomas, Varun Aggarwal
Summary: This study evaluated the outcomes of patients who underwent surgical repair for ARCAPA within the Pediatric Cardiac Care Consortium (PCCC). The study found that patients had excellent outcomes after surgery, with good survival rates even up to 25 years of follow-up.
CARDIOLOGY IN THE YOUNG
(2023)
Article
Cardiac & Cardiovascular Systems
Jessica H. Knight, Amber Leila Sarvestani, Chizitam Ibezim, Elizabeth Turk, Courtney E. McCracken, Bahaaldin Alsoufi, James St Louis, James H. Moller, Geetha Raghuveer, Lazaros K. Kochilas
Summary: This study analyzed the 25-year survival outcomes of children with congenital aortic valve disease who underwent different types of valve replacement surgeries, finding that pulmonic valve autograft provided the best long-term outcomes, while mechanical prosthetic valves were associated with a higher risk of mortality/transplant. Surgical outcomes may depend on the experience of the treatment center and patient selection.
Article
Cardiac & Cardiovascular Systems
Maria Batsis, Lazaros Kochilas, Alvin J. Chin, Michael Kelleman, Eric Ferguson, Matthew E. Oster
Summary: The study found that the use of digoxin during the interstage period is associated with better preservation of RV volume and tricuspid valve measurements, leading to less adverse remodeling of the single ventricle. These results suggest a possible mechanism explaining the survival benefit of digoxin during the interstage period.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Cardiac & Cardiovascular Systems
Lydia K. Wright, Rachel Zmora, Yijian Huang, Matthew E. Oster, Courtney McCracken, William T. Mahle, Lazaros Kochilas, Andreas Kalogeropoulos
Summary: This study aimed to investigate the longitudinal risk of advanced heart failure (HF) leading to death, heart transplantation, or ventricular assist device (VAD) placement after congenital heart surgery (CHS) and its variation across the spectrum of congenital heart disease. The results showed that patients with congenital heart disease, regardless of the severity, had a high risk of HF-related death, transplantation, or VAD placement. Even those with mild disease were at a greater risk than the general population.
AMERICAN JOURNAL OF CARDIOLOGY
(2022)
Article
Developmental Biology
Kenneth C. C. Riley Jr, Alaa Koleilat, Joseph A. Dugdale, Shawna A. Cooper, Trace A. Christensen, Lisa A. Schimmenti
Summary: Our understanding of inner ear hair cell ultrastructure has been expanded by using serial block-face scanning electron microscopy (SBFSEM) to evaluate hair cells in myo7aa(-/-) null zebrafish compared to wild-type zebrafish. We found that myo7aa(-/-) mutant ribbon synapses are smaller in volume and surface area, but similar in other measurements. This suggests that therapeutic intervention may be feasible for myo7aa(-/-) mutant ribbons.
Article
Genetics & Heredity
Polakit Teekakirikul, Wenjuan Zhu, George C. Gabriel, Cullen B. Young, Kylia Williams, Lisa J. Martin, Jennifer C. Hill, Tara Richards, Marie Billaud, Julie A. Phillippi, Jianbin Wang, Yijen Wu, Tuantuan Tan, William Devine, Jiuann-huey Lin, Abha S. Bais, Jonathan Klonowski, Anne Moreau de Bellaing, Ankur Saini, Michael X. Wang, Leonid Emerel, Nathan Salamacha, Samuel K. Wyman, Carrie Lee, Hung Sing Li, Anastasia Miron, Jingyu Zhang, Jianhua Xing, Dennis M. McNamara, Erik Fung, Paul Kirshbom, William Mahle, Lazaros K. Kochilas, Yihua He, Vidu Garg, Peter White, Kim L. McBride, D. Woodrow Benson, Thomas G. Gleason, Seema Mital, Cecilia W. Lo
Summary: Bicuspid aortic valve (BAV) is the most common congenital heart defect with genetic links to other heart diseases. Studies show that certain deletion copy number variants within the PCDHA gene cluster are associated with LVOTO.
HUMAN GENETICS AND GENOMICS ADVANCES
(2021)