Fernanda Sarquis Jehee

Utrecht University

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Co-Authors

Maria Rita Passos‐Bueno

Universidade de São Paulo

Chong Ae Kim

AstraZeneca (United States)

Carla Rosenberg

Universidade de São Paulo

Débora Romeo Bertola

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Mariana L. de Freitas

Insper

Angela Maria Vianna‐Morgante

Universidade de São Paulo

Roseli Maria Zechi‐Ceide

Universidade de São Paulo

Juliana F. Mazzeu

Universidade de Brasília

Ana Cristina Victorino Krepischi

Universidade de São Paulo

Rafaella X. Pietra

Centro Universitário de Belo Horizonte

Cooperative Institutions

National Center on Birth Defects and Developmental Disabilities

162

Erasmus MC

Universidade de São Paulo

Radboud University Nijmegen

Erasmus University Rotterdam

Inserm

Radboud University Medical Center

University Medical Center

Hudson Institute

John Wiley & Sons (United Kingdom)

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Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

American Journal of Medical Genetics Part A (2007)

Emily S Doherty Felicitas Lacbawan Donald W. Hadley Carmen C. Brewer Christopher Zalewski

Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings in Muenke syndrome. To better define the clinical features of this syndrome, we initiated a study of the natural history of Muenke syndrome. To date, we have conducted a standardized evaluation of nine patients with a confirmed Pro250Arg mutation in FGFR3. We reviewed audiograms from an additional 13 patients with Muenke syndrome. A majority of the patients (95%) demonstrated a mild-to-moderate, low frequency sensorineural hearing loss. This pattern of hearing loss was not previously recognized as characteristic of Muenke syndrome. We also report on feeding and swallowing difficulties in children with Muenke syndrome. Combining 312 reported cases of Muenke syndrome with data from the nine NIH patients, we found that females with the Pro250Arg mutation were significantly more likely to be reported with craniosynostosis than males (P < 0.01). Based on our findings, we propose that the clinical management should include audiometric and developmental assessment in addition to standard clinical care and appropriate genetic counseling.

Penetrance

Audiogram

10.1002/ajmg.a.32078

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Citations (112)

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

The American Journal of Human Genetics (2022)

Lisanne van Prooyen Schuurman Erik A. Sistermans Diane Van Opstal Lidewij Henneman Mireille N. Bekker

(The American Journal of Human Genetics 109, 1140–1152; June 2, 2022) In the originally published version of this article, in Table 3, the column heading “Placenta biopsies” was placed erroneously under “Available clinical follow-up” instead of under “Available cytogenic follow-up.” The authors apologize for this error, which has been corrected online. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 studyvan Prooyen Schuurman et al.The American Journal of Human GeneticsJune 02, 2022In BriefIn the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Full-Text PDF Open Access

Prenatal screening

10.1016/j.ajhg.2022.06.003

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Citations (10)

High-fat diet feeding reduces the expression of Rab3a, Rab3gap1, and Rab3Gap2 genes that are pivotal to neuronal exocytosis

bioRxiv (Cold Spring Harbor Laboratory) (2021)

Luana Assis Ferreira Fernando Victor Martins Rubatino Mariana Lacerda de Freitas Leonardo Rossi de Oliveira Célio José de Castro

Abstract The Rab3A and Rab3gaps are essential to the Ca +2 -dependent neuronal exocytosis in the hypothalamus. The arcuate nucleus of the hypothalamus (ARC) controls food intake and energy expenditure. We have earlier described that the high-fat diet (HFD) feeding induces an obesity phenotype with high leptin production and alteration of proteins related to endosome sorting, and ubiquitination in the ARC of mice. In this study, real-time PCR data analysis revealed that HFD feeding decreases significantly Rab3a, Rab3gap1 , and Rab3gap2 transcript levels in the ARC when compared to the group receiving a control diet. The decrease of Rab3gap1/2 transcript levels in the ARC was strongly associated with an increase in plasma leptin. Altogether, our studies demonstrate that HFD feeding could be altering the general network of endosome compartmentalization in the ARC of mice, contributing to a failure in exocytosis and receptor recycling. Graphical abstract

Compartmentalization (fire protection)

Energy homeostasis

10.1101/2021.09.10.459820

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An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

American Journal of Medical Genetics Part A (2007)

Carla S. D’Angelo Fernanda Sarquis Jehee Célia Priszkulnik Koiffmann

This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/1552-4825/suppmat/index.html . Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

10.1002/ajmg.a.31787

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Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

American Journal of Medical Genetics Part A (2010)

Dorien Lugtenberg Luiz Zangrande‐Vieira Maria Kirchhoff Annabel Whibley Astrid Oudakker

Abstract ZNF630 is a member of the primate‐specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41 , ZNF81 , and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating that the deletions resulted from non‐allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6‐fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant ( P ‐value = 0.174). Conversely, a 1.9‐fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either ( P ‐value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation. © 2010 Wiley‐Liss, Inc.

Non-allelic homologous recombination

Breakpoint

Segmental duplication

10.1002/ajmg.a.33292

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Citations (6)

Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?

Acta Obstetricia Et Gynecologica Scandinavica (2021)

Malgorzata I. Srebniak Fernanda Sarquis Jehee Marieke Joosten Marjan Boter Walter G. de Valk

The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate whether an unbalanced translocation can also be diagnosed in cell free DNA by whole-genome non-invasive prenatal screening (NIPS).Pregnant women carrying a fetus with an unbalanced familial translocation, for whom NIPS as well as microarray data were available, were included in this retrospective assessment. NIPS was performed in the course of the TRIDENT study.In 12 cases, both NIPS and microarray data were available. In 10 of 12 cases the unbalanced translocation was correctly identified by NIPS without prior knowledge on parental translocation. One was missed because the fetal fraction was too low. One was missed because of technical restrictions in calling 16p gains.This study supports the hypothesis that routine NIPS may be used for prenatal diagnosis of unbalanced inheritance of familial translocations, especially with prior knowledge of the translocation allowing focused examination of the involved chromosomal regions. Our study showed that routine shallow sequencing designed for aneuploidy detection in cell free DNA may be sufficient for higher resolution NIPS, if specialized copy number software is used and if sufficient fetal fraction is present.

Cell-free fetal DNA

Cytotrophoblast

Amniocentesis

Chorionic villi

10.1111/aogs.14256

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Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients

The Cleft Palate-Craniofacial Journal (2006)

Fernanda Sarquis Jehee Luís Garcia Alonso Denise P. Cavalcanti Chong Ae Kim Steven A. Wall

Objective Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. Design Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and/or direct sequencing, we analyzed a total of 81 patients for FGFR1 (exon 7), 70 for CER1, and 44 for CDON. Patients Patients were ascertained in the Centro de Estudos do Genoma Humano in São Paulo, Brazil (n = 39), the Craniofacial Unit, Oxford, U.K. (n = 23), and the Johns Hopkins University, Baltimore, Maryland (n = 31). Clinical inclusion criteria included a triangular head and/or forehead, with or without a metopic ridge, and a radiographic documentation of metopic synostosis. Both syndromic and nonsyndromic patients were studied. Results No sequence alterations were found for FGFR1 (exon 7). Different patterns of SSCP migration for CER1 compatible with the segregation of single nucleotide polymorphisms reported in the region were identified. Seventeen sequence alterations were detected in the coding region of CDON, seven of which are new, but segregation analysis in parents and homology studies did not indicate a pathological role. Conclusions: FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. Screening of FGFR1 (exon 7) for diagnostic purposes should not be performed in trigonocephalic patients.

Trigonocephaly

10.1597/04-206.1

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Noninvasive Prenatal Testing as Compared to Chorionic Villus Sampling Is More Sensitive for the Detection of Confined Placental Mosaicism Involving the Cytotrophoblast

Obstetrical & Gynecological Survey (2021)

Diane Van Opstal Geerke M. Eggenhuizen Marieke Joosten Karin E. M. Diderich Lutgarde Govaerts

(Abstracted from Prenat Diagn 2020;40:1338–1342) Confined placental mosaicism (CPM) describes a chromosomally abnormal placenta with a chromosomally normal fetus. Confined prenatal mosaicism may be detected prenatally by either chorionic villus sampling (CVS) or noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA), which evaluates the DNA released from cytotrophoblast (CTB) into maternal blood.

Chorionic villus sampling

Cytotrophoblast

Cell-free fetal DNA

Chorionic villi

Amniocentesis

10.1097/01.ogx.0000733524.21362.2c

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Molecular aspects of craniosynostoses: implications in diagnosis and genetic counseling

Revista de Medicina (2001)

Maria Rita Passos‐Bueno Fernanda Sarquis Jehee Lúcia Maria Libório Armelin

Graniossinostose caracteriza-se pelo fechamento prematuro de uma ou mais suturas cranianas. As craniossinostoses formam um grupo bastante heterogêneo, com uma incidência de 1 para 2000-3000 nascimentos. Tanto fatores ambientais como genéticos podem estar relacionados com o surgimento das craniossinostoses. Na última década, verificou-se que mutações em 4 genes (FGFR1, FGFR2, FGFR3, TWIST) podem causar formas sindrômicas de craniossinostose bem definidas clinicamente, a saber: Sindromes de Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson e Saethre-Chotzen. Ainda, duas novas síndromes foram clinicamente e molecularmente caracterizadas: a síndrome de Muenke e a de Boston. O quadro clínico associado com estas duas formas de craniossinostose é bastante variado. incluindo desde paciente com crânio em trevo até aqueles com apenas craniossinostose da sutura coronal (bilateral ou unilateral), os quais são classificados como portadores de craniossinostose não sindrômica. Uma precisa correlação fenótipo-genótipo têm sido difícil na grande maioria dos casos devido à sobreposição do quadro clínico e pela heterogeneidade genética do grupo, e portanto o teste molecular pode ser importante para o diagnóstico de um grande número de pacientes. O padrão de herança das craniossinostoses acima referidas é o autossômico dominante, o que significa que um indivíduo afetado possui 50% de chance de vir a ter um filho afetado com a mesma condição. Outros padrões de herança também têm sido relatados, sendo sempre importante uma avaliação genética e clínica de todos os membros da família do afetado. Exemplificamos com dois casos atendidos em nosso laboratório, a importância do uso de testes moleculares para a confirmação do diagnóstico e realização precisa do aconselhamento genético.

Craniosynostoses

10.11606/issn.1679-9836.v80i1p7-13

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Citations (1)

Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil

Genetics and Molecular Research (2016)

Gabrielle S. Vianna Paula Frassinetti Vasconcelos de Medeiros A.F. Alves T. O. Silva Fernanda Sarquis Jehee

In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes.In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation.Blood samples were collected from the proband and from their parents when possible.DNA was extracted and investigated using the array-CGH test.Findings were evaluated for the pathogenicity in databases of benign and pathogenic changes (ISCA, UCSC, DGV, and DECIPHER).Forty-seven copy number variations (CNVs) were identified in 43/200 (21.5%) patients, including 25/98 (25.5%) in males and 22/102 (21.57%) in females.We considered 33 of these to be clinically significant, reaching a diagnosis rate of 16.5%.The sizes of the CNVs varied from 102 kb to 24 Mb in deletions and from 115 kb to 140 Mb in duplications.In 10/47 (21.3%) patients, the rearrangement involved a sex chromosome.Thirty-nine patients had one chromosomal aberration, while 2 concomitant abnormalities were detected in 4 patients.©FUNPEC-RP www.funpecrp.com.brGenetics and Molecular Research 15 (1): gmr.15017769Ten of 47 CNVs (21.3%) were > 5Mb in size.Fifteen patients had CNVs related to known syndromes.This research highlights the contribution of submicroscopic chromosomal changes to the etiology of intellectual disability and/or congenital malformation, particularly the implication of chromosomal abnormalities detected using an array-CGH test, with a high rate of 16.5%.Thus, our results support the use of array-CGH replacing standard karyotype as the first-tier cytogenetic diagnostic test for patients with multiple congenital anomalies and/or intellectual disability.

Proband

Congenital malformations

Etiology

DECIPHER

Concomitant

10.4238/gmr.15017769

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Citations (13)