Identification of genomic imbalances in oral clefts

Lustosa-Mendes, Elaine; Santos, Ana Paula dos; Vieira, Társis Paiva; Ribeiro, Erlane Marques; Rezende, Adriana Augusto de; Fett‐Conte, Agnes Cristina; Cavalcanti, Denise Pontes; Félix, Têmis Maria; Monlleó, Isabella Lopes; Gil-da-Silva-Lopes, Vera Lúcia

doi:10.1016/j.jped.2020.06.005

Cited by 7 publications

(7 citation statements)

References 27 publications

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“…We did find a higher percentage of associated anomalies (76.4%) in our CLA/P cohort than reported in previous studies (range 3%-63%) [Lustosa-Mendes et al, 2021]. This wide range in percentages can be caused by differences in study population, including cleft type and age, or to varying definitions of anomalies and study design.…”

Section: Discussioncontrasting

confidence: 70%

“…Recently, Lustosa-Mendes and colleagues reported on the predictive value of the presence of additional minor anomalies in diagnostics of a large cleft cohort; the mean number of minor signs in their oral cleft cohort was statistically higher in cases with abnormal chromosomal microanalysis results [Lustosa-Mendes et al, 2021]. This phenomenon was also described for other disorders, e.g., autism [van Daalen et al, 2011].…”

Section: Discussionmentioning

confidence: 89%

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Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

Wurfbain,

Cox,

van Dooren

et al. 2023

Mol Syndromol

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Objectives: Clefts of the lip, alveolus and/or palate (CLA/P) are the most common craniofacial congenital malformations in humans. These oral clefts can be divided into non-syndromic (isolated) and syndromic forms. Many cleft-related syndromes are clinically variable and genetically heterogeneous, making it challenging to distinguish syndromic from non-syndromic cases. Recognition of syndromic/genetic causes is important for personalized tailored care, identification of (unrecognized) comorbidities, and accurate genetic counseling. Therefore, next generation sequencing (NGS)-based targeted gene panel testing is increasingly implemented in diagnostics of CLA/P patients. In this retrospective study, we assess the yield of NGS gene panel testing in a cohort of CLA/P cases. Methods: Whole exome sequencing (WES) followed by variant detection and interpretation in an a priori selected set of genes associated with CLA/P phenotypes was performed in 212 unrelated CLA/P patients after genetic counseling between 2015 and 2020. Medical records including family history and results of additional genetic tests were evaluated. Results: In 24 CLA/P cases (11.3%), a pathogenic genetic variant was identified. Twenty out of these 24 had a genetic syndrome requiring specific monitoring and follow-up. Six of these 24 cases (25%) were presumed to be isolated CLA/P cases prior to testing, corresponding to 2.8% of the total cohort. In eight CLA/P cases (3.8%) without a diagnosis after NGS-based gene panel testing, a molecular diagnosis was established by additional genetic analyses (e.g., SNP array, single gene testing, trio WES). Conclusion: This study illustrates NGS-based gene panel testing is a powerful diagnostic tool in the diagnostic workup of CLA/P patients. Also, in apparently isolated cases and non-familial cases, a genetic diagnosis can be identified. Early diagnosis facilitates personalized care for patients and accurate genetic counseling of their families.

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Section: Discussioncontrasting

confidence: 70%

Section: Discussionmentioning

confidence: 89%

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

Wurfbain,

Cox,

van Dooren

et al. 2023

Mol Syndromol

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“…There is limited evidence to support the significance of this deletion in the formation of cysts. However, loss of heterozygosity for this allele increases the risk of death and relapse in patients with Wilms tumor, and a similar deletion was associated with a patient with an oral cleft [84,85]. Two patients with JS and one with NPHC had the mutation in the CEP290 gene.…”

Section: Genetic Testingmentioning

confidence: 99%

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

Grlić,

Gregurović,

Martinić

et al. 2024

Children

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Introduction: Pediatric cystic kidney disease (CyKD) includes conditions characterized by renal cysts. Despite extensive research in this field, there are no reliable genetics or other biomarkers to estimate the phenotypic consequences. Therefore, CyKD in children heavily relies on clinical and diagnostic testing to predict the long-term outcomes. Aim: A retrospective study aimed to provide a concise overview of this condition and analyze real-life data from a single-center pediatric CyKD cohort followed during a 12-year period. Methods and Materials: Medical records were reviewed for extensive clinical, laboratory, and radiological data, treatment approaches, and long-term outcomes. Results: During the study period, 112 patients received a diagnosis of pediatric CyKD. Male patients were more involved than female (1:0.93). Fifty-six patients had a multicystic dysplastic kidney; twenty-one of them had an autosomal dominant disorder; fifteen had an isolated renal cyst; ten had been diagnosed with autosomal recessive polycystic kidney disease; three had the tuberous sclerosis complex; two patients each had Bardet–Biedl, Joubert syndrome, and nephronophthisis; and one had been diagnosed with the trisomy 13 condition. Genetic testing was performed in 17.9% of the patients, revealing disease-causing mutations in three-quarters (75.0%) of the tested patients. The most commonly presenting symptoms were abdominal distension (21.4%), abdominal pain (15.2%), and oligohydramnios (12.5%). Recurrent urinary tract infections (UTI) were documented in one-quarter of the patients, while 20.5% of them developed hypertension during the long-term follow-up. Antibiotic prophylaxis and antihypertensive treatment were the most employed therapeutic modalities. Seventeen patients progressed to chronic kidney disease (CKD), with thirteen of them eventually reaching end-stage renal disease (ESRD). The time from the initial detection of cysts on an ultrasound (US) to the onset of CKD across the entire cohort was 59.0 (7.0–31124.0) months, whereas the duration from the detection of cysts on an US to the onset of ESRD across the whole cohort was 127.0 (33.0–141.0) months. The median follow-up duration in the cohort was 3.0 (1.0–7.0) years. The patients who progressed to ESRD had clinical symptoms at the time of initial clinical presentation. Conclusion: This study is the first large cohort of patients reported from Croatia. The most common CyKD was the multicystic dysplastic kidney disease. The most common clinical presentation was abdominal distention, abdominal pain, and oliguria. The most common long-term complications were recurrent UTIs, hypertension, CKD, and ESRD.

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“…The presence of prematurity, weight, length, and head circumference at birth were found to be significantly lower when genomic imbalances are detected, while the number of minor signs were significantly higher. These data may improve the professional ability to detect and refer patients with syndromic OFC to genetic assessment earlier and are important since timely diagnosis and treatment are crucial to achieve a better quality of life and offer genetic counseling (Lustosa‐Mendes et al, 2020).…”

Section: Section 2: Genetic Multicentric Studies In the Brazilian Popmentioning

confidence: 99%

Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

Gil-da-Silva-Lopes

Atique-Tacla

Vieira

et al. 2020

American J of Med Genetics Pt C

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This article reports the present situation of Brazilian health care in genetics for Orofacial Cleft (OFC) and 22q11.2 Deletions Syndrome (22q11.2 DS) based on research conducted by Brazil's Craniofacial Project (BCFP). Established in 2003, BCFP is a voluntary and cooperative network aiming to investigate the health care of people with these diseases and other craniofacial anomalies. The initiatives and research results are presented in four sections: (a) a comprehensive report of the Brazilian public health system in craniofacial genetics; (b) multicentric studies developed on OFC and 22q11.2 DS; (c) education strategies focused on addressing these conditions for both population and health-care professionals; and (d) the nosology through

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Identification of genomic imbalances in oral clefts

Cited by 7 publications

References 27 publications

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

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