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Article ; Online: Prenatal Diagnosis of Primrose Syndrome.

Abdallah, Wael / Spaggiari, Emmanuel / Brisset, Sophie / Dard, Rodolphe / Attié Bitach, Tania / Bault, Jean Philippe / Quibel, Thibault

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine

2023 Volume 43, Issue 2, Page(s) 411–414

Abstract: Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may appear during childhood, but the diagnosis is identified in adulthood in the majority of cases. The prenatal diagnosis of Primrose syndrome is not developed in the ... ...

Abstract	Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may appear during childhood, but the diagnosis is identified in adulthood in the majority of cases. The prenatal diagnosis of Primrose syndrome is not developed in the literature. We present herein a case series of 3 cases with characteristic sonographic features. A dysmorphic metopic suture, downslanting palpebral fissures, a wide forehead, and agenesis of corpus callosum are the main signs. A missense mutation in ZBTB20 identified in whole exome sequencing can confirm the prenatal diagnosis of Primrose syndrome.
MeSH term(s)	Pregnancy ; Female ; Humans ; Abnormalities, Multiple/diagnostic imaging ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Calcinosis ; Prenatal Diagnosis ; Agenesis of Corpus Callosum/diagnostic imaging ; Agenesis of Corpus Callosum/genetics ; Ear Diseases ; Muscular Atrophy
Language	English
Publishing date	2023-11-06
Publishing country	England
Document type	Case Reports
ZDB-ID	604829-8
ISSN	1550-9613 ; 0278-4297
ISSN (online)	1550-9613
ISSN	0278-4297
DOI	10.1002/jum.16354
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Zs.A 1793: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 495: Show issues

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Article ; Online: Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.

Bourgon, Nicolas / Chen, Ruiqian / Grangé, Gilles / Grotto, Sarah / Molac, Clémence / Loeuillet, Laurence / Attié-Bitach, Tania

Prenatal diagnosis

2023 Volume 43, Issue 13, Page(s) 1666–1670

Abstract: Neu Laxova syndrome (NLS) is a rare and lethal congenital disorder characterized by severe intra-uterine growth retardation (IUGR), ichthyosis, abnormal facial features, limb abnormalities with arthrogryposis and a wide spectrum of severe malformations ... ...

Abstract	Neu Laxova syndrome (NLS) is a rare and lethal congenital disorder characterized by severe intra-uterine growth retardation (IUGR), ichthyosis, abnormal facial features, limb abnormalities with arthrogryposis and a wide spectrum of severe malformations of the central nervous system (CNS). NLS is due to biallelic variants in three genes previously involved in serine-deficiency disorders (PHGDH, PSAT1 and PSPH), extending the phenotypic spectrum of these disorders.
MeSH term(s)	Pregnancy ; Female ; Humans ; Pregnancy Trimester, First ; Microcephaly/genetics ; Fetal Growth Retardation/diagnosis ; Fetal Growth Retardation/genetics ; Ichthyosis/diagnosis ; Ichthyosis/genetics ; Phenotype
Language	English
Publishing date	2023-11-14
Publishing country	England
Document type	Journal Article
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.6463
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Zs.A 1625: Show issues

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Article ; Online: Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.

Hennocq, Quentin / Garcelon, Nicolas / Bongibault, Thomas / Bouygues, Thomas / Marlin, Sandrine / Amiel, Jeanne / Boutaud, Lucile / Douillet, Maxime / Lyonnet, Stanislas / Pingault, Vèronique / Picard, Arnaud / Rio, Marlèe / Attie-Bitach, Tania / Khonsari, Roman H / Roux, Nathalie

Prenatal diagnosis

2024

Abstract: Objective: Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses-=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type (MFDGA)-versus controls.: Method: We trained an automatic model on ... ...

Abstract	Objective: Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses-=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type (MFDGA)-versus controls. Method: We trained an automatic model on all profile pictures of children diagnosed with genetically confirmed MFDGA and CHARGE syndromes, and a cohort of control patients, collected from 1981 to 2023 in Necker Hospital (Paris) with a visible external ear. The model consisted in extracting landmarks from photographs of external ears, in applying geometric morphometry methods, and in a classification step using machine learning. The approach was then tested on photographs of two groups of fetuses: controls and fetuses with CHARGE and MFDGA syndromes. Results: The training set contained a total of 1489 ear photographs from 526 children. The validation set contained a total of 51 ear photographs from 51 fetuses. The overall accuracy was 72.6% (58.3%-84.1%, p < 0.001), and 76.4%, 74.9%, and 86.2% respectively for CHARGE, control and MFDGA fetuses. The area under the curves were 86.8%, 87.5%, and 90.3% respectively for CHARGE, controls, and MFDGA fetuses. Conclusion: We report the first automatic fetal ear phenotyping model, with satisfactory classification performances. Further validations are required before using this approach as a diagnostic tool.
Language	English
Publishing date	2024-04-18
Publishing country	England
Document type	Journal Article
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.6577
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Zs.A 1625: Show issues

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Article ; Online: Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Nicolle, Romain / Boutaud, Lucile / Loeuillet, Laurence / Talhi, Naima / Grotto, Sarah / Bourgon, Nicolas / Feresin, Agnese / Coussement, Aurélie / Barrois, Mathilde / Beaujard, Marie-Paule / Rambaud, Thomas / Razavi, Férechté / Attié-Bitach, Tania

European journal of human genetics : EJHG

2024 Volume 32, Issue 5, Page(s) 545–549

Abstract: Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero, of poor neurodevelopmental prognosis. This ventricular enlargement can be the consequence of different mechanisms: either by a disruption of the cerebrospinal fluid ... ...

Abstract	Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero, of poor neurodevelopmental prognosis. This ventricular enlargement can be the consequence of different mechanisms: either by a disruption of the cerebrospinal fluid circulation or abnormalities of its production/absorption. The aqueduct stenosis is one of the most frequent causes of obstructive ventriculomegaly, however, fewer than 10 genes have been linked to this condition and molecular bases remain often unknown. We report here 4 fetuses from 2 unrelated families presenting with ventriculomegaly at prenatal ultra-sonography as well as an aqueduct stenosis and skeletal abnormalities as revealed by fetal autopsy. Genome sequencing identified biallelic pathogenic variations in LIG4, a DNA-repair gene responsible for the LIG4 syndrome which associates a wide range of clinical manifestations including developmental delay, microcephaly, short stature, radiation hypersensitivity and immunodeficiency. Thus, not only this report expands the phenotype spectrum of LIG4-related disorders, adding ventriculomegaly due to aqueduct stenosis, but we also provide the first neuropathological description of fetuses carrying LIG4 pathogenic biallelic variations.
MeSH term(s)	Humans ; Female ; Phenotype ; Hydrocephalus/genetics ; Hydrocephalus/pathology ; Hydrocephalus/diagnostic imaging ; Male ; DNA Ligase ATP/genetics ; Cerebral Aqueduct/pathology ; Cerebral Aqueduct/abnormalities ; Cerebral Aqueduct/diagnostic imaging ; Fetus/pathology ; Pregnancy ; Mutation ; Adult ; Constriction, Pathologic/genetics ; Constriction, Pathologic/pathology
Chemical Substances	DNA Ligase ATP (EC 6.5.1.1) ; LIG4 protein, human
Language	English
Publishing date	2024-02-13
Publishing country	England
Document type	Journal Article ; Case Reports ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-024-01558-2
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Zs.A 3589: Show issues

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Article: De la fœtopathologie au gène.

Attie-Bitach, Tania

Annales de pathologie

2012 Volume 32, Issue 5 Suppl, Page(s) S48–9

Title translation	From foetopathology to disease-causing gene.
MeSH term(s)	Ciliary Motility Disorders/genetics ; Congenital Abnormalities/genetics ; Exons/genetics ; Fetal Death/genetics ; Genes, Lethal ; Genetic Association Studies ; Humans ; Hydranencephaly/genetics ; Intracellular Signaling Peptides and Proteins/genetics ; Orofaciodigital Syndromes/genetics ; Sequence Analysis, DNA ; Syndrome ; Walker-Warburg Syndrome/genetics
Chemical Substances	Intracellular Signaling Peptides and Proteins ; TCTN3 protein, human
Language	French
Publishing date	2012-11
Publishing country	France
Document type	Journal Article
ZDB-ID	225720-8
ISSN	0242-6498
ISSN	0242-6498
DOI	10.1016/j.annpat.2012.08.007
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Zs.A 1652: Show issues

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Article ; Online: A cell fate decision map reveals abundant direct neurogenesis bypassing intermediate progenitors in the human developing neocortex.

Coquand, Laure / Brunet Avalos, Clarisse / Macé, Anne-Sophie / Farcy, Sarah / Di Cicco, Amandine / Lampic, Marusa / Wimmer, Ryszard / Bessières, Betina / Attie-Bitach, Tania / Fraisier, Vincent / Sens, Pierre / Guimiot, Fabien / Brault, Jean-Baptiste / Baffet, Alexandre D

Nature cell biology

2024

Abstract: The human neocortex has undergone strong evolutionary expansion, largely due to an increased progenitor population, the basal radial glial cells. These cells are responsible for the production of a diversity of cell types, but the successive cell fate ... ...

Abstract	The human neocortex has undergone strong evolutionary expansion, largely due to an increased progenitor population, the basal radial glial cells. These cells are responsible for the production of a diversity of cell types, but the successive cell fate decisions taken by individual progenitors remain unknown. Here we developed a semi-automated live/fixed correlative imaging method to map basal radial glial cell division modes in early fetal tissue and cerebral organoids. Through the live analysis of hundreds of dividing progenitors, we show that basal radial glial cells undergo abundant symmetric amplifying divisions, and frequent self-consuming direct neurogenic divisions, bypassing intermediate progenitors. These direct neurogenic divisions are more abundant in the upper part of the subventricular zone. We furthermore demonstrate asymmetric Notch activation in the self-renewing daughter cells, independently of basal fibre inheritance. Our results reveal a remarkable conservation of fate decisions in cerebral organoids, supporting their value as models of early human neurogenesis.
Language	English
Publishing date	2024-03-28
Publishing country	England
Document type	Journal Article
ZDB-ID	1474722-4
ISSN	1476-4679 ; 1465-7392
ISSN (online)	1476-4679
ISSN	1465-7392
DOI	10.1038/s41556-024-01393-z
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Zs.A 5169: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 12: Show issues

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Article ; Online: Morphological and genetic causes of fetal cardiomyopathies.

Kohaut, Eva / Ader, Flavie / Rooryck, Caroline / Pelluard, Fanny / Bonnière, Maryse / André, Gwenaelle / Sauvestre, Fanny / Roth, Philippe / Khraiche, Diala / Bessières, Bettina / Attié-Bitach, Tania / Richard, Pascale

Clinical genetics

2023 Volume 104, Issue 1, Page(s) 63–72

Abstract: Cardiomyopathies are diseases of the heart muscle with variable clinical expressivity. Most of forms are inherited as dominant trait, and with incomplete penetrance until adulthood. Severe forms of cardiomyopathies were observed during the antenatal ... ...

Abstract	Cardiomyopathies are diseases of the heart muscle with variable clinical expressivity. Most of forms are inherited as dominant trait, and with incomplete penetrance until adulthood. Severe forms of cardiomyopathies were observed during the antenatal period with a pejorative issue leading to fetal death or medical interruption of pregnancy. Variable phenotypes and genetic heterogeneity make etiologic diagnosis difficult. We report 11 families (16 cases) whose unborn, newborn or infant with early onset cardiomyopathies. Detailed morphological and histological examinations of hearts were implemented, as well as genetic analysis on a cardiac targeted NGS panel. This strategy allowed the identification of the genetic cause of the cardiomyopathy in 8/11 families. Compound heterozygous mutations in dominant adulthood cardiomyopathy genes were found in two, pathogenic variants in co-dominant genes in one, de novo mutations in 5 including a germline mosaicism in one family. Parental testing was systematically performed to detect mutation carriers, and to manage cardiological surveillance and propose a genetic counseling. This study highlights the great diagnostic value of the genetic testing of severe antenatal cardiomyopathy both for genetic counseling and to detect presymptomatic parents at higher risk of developing cardiomyopathy.
MeSH term(s)	Pregnancy ; Humans ; Female ; Cardiomyopathies/diagnosis ; Genetic Testing ; Mutation ; Phenotype ; Genetic Counseling
Language	English
Publishing date	2023-05-20
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14333
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Zs.A 413: Show issues

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Article ; Online: Clinical heterogeneity of NADSYN1-associated VCRL syndrome.

Aubert-Mucca, Marion / Janel, Caroline / Porquet-Bordes, Valérie / Patat, Olivier / Touraine, Renaud / Edouard, Thomas / Michot, Caroline / Tessier, Aude / Cormier-Daire, Valérie / Attie-Bitach, Tania / Baujat, Geneviève

Clinical genetics

2023 Volume 104, Issue 1, Page(s) 114–120

Abstract: The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell metabolism and organ embryogenesis. Perturbating the role of NAD biosynthesis results in the association of vertebral, ... ...

Abstract	The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell metabolism and organ embryogenesis. Perturbating the role of NAD biosynthesis results in the association of vertebral, cardiac, renal, and limb anomalies (VCRL). This condition was initially characterized as severe with perinatal lethality or developmental delay and complex malformations in alive cases. Sixteen NADSYN1-associated patients have been published so far. This study illustrates the wide phenotypic variability in NADSYN1-associated NAD deficiency disorder. We report the clinical and molecular findings in three novel cases, two of them being siblings with the same homozygous variant and presenting with either a very severe prenatal lethal or a mild phenotypic form. In addition to an exhaustive literature, we validate the expansion of the spectrum of NAD deficiency disorder. Our findings indicate that NAD deficiency disorder should be suspected not only in the presence of the full spectrum of VCRL, but even a single of the aforementioned organs is affected. Decreased plasmatic levels of NAD should then strongly encourage the screening for any of the genes responsible for a NAD deficiency disorder.
MeSH term(s)	Female ; Humans ; Pregnancy ; Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor ; Homozygote ; NAD ; Spine/abnormalities ; Syndrome
Chemical Substances	Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor (EC 6.3.5.-) ; NAD (0U46U6E8UK) ; NADSYN1 protein, human (EC 6.3.5.-)
Language	English
Publishing date	2023-03-23
Publishing country	Denmark
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14328
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Article ; Online: Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2.

Lamouroux, Audrey / Attie-Bitach, Tania / Martinovic, Jelena / Leruez-Ville, Marianne / Ville, Yves

American journal of obstetrics and gynecology

2020 Volume 223, Issue 1, Page(s) 91.e1–91.e4

Abstract: COVID-19 can severely affect pregnant women Furthermore, issues regarding vertical transmission of severe acute respiratory syndrome coronavirus 2 are emerging. In patients and neonates who are showing symptoms of coronavirus disease 2019, real-time ... ...

Abstract	COVID-19 can severely affect pregnant women Furthermore, issues regarding vertical transmission of severe acute respiratory syndrome coronavirus 2 are emerging. In patients and neonates who are showing symptoms of coronavirus disease 2019, real-time polymerase chain reaction of nasal and throat swabs, sputum, and feces is performed to detect the presence of severe acute respiratory syndrome coronavirus 2. In addition, real-time polymerase chain reaction of vaginal swabs, amniotic fluid, placenta, cord blood, neonatal blood, or breast milk for the detection of severe acute respiratory syndrome coronavirus 2 did not show substantial results. Viremia was present in 1% of adult patients who were showing symptoms of coronavirus disease 2019. Here, we reviewed 12 articles published between Feb. 10, 2020, and April 4, 2020, that reported on 68 deliveries and 71 neonates with maternal infection in the third trimester of pregnancy. To determine whether infection occurred congenitally or perinatally, perinatal exposure, mode of delivery, and time interval from delivery to the diagnosis of neonatal infection were considered. Neonates with severe acute respiratory syndrome coronavirus 2 infection are usually asymptomatic. In 4 cases, a diagnostic test for severe acute respiratory syndrome coronavirus 2 infection was performed within 48 hours of life. Furthermore, detection rates of real-time polymerase chain reaction and the interpretation of immunoglobulin M and immunoglobulin G antibodies levels in cord and neonatal blood were discussed in relation with the immaturity of the fetal and neonatal immune system.
MeSH term(s)	Amniotic Fluid/virology ; Betacoronavirus ; COVID-19 ; Cesarean Section ; Coronavirus Infections/diagnosis ; Coronavirus Infections/transmission ; Female ; Humans ; Infant, Newborn ; Infectious Disease Transmission, Vertical ; Pandemics ; Placenta/virology ; Pneumonia, Viral/diagnosis ; Pneumonia, Viral/transmission ; Pregnancy ; Pregnancy Complications, Infectious/virology ; SARS-CoV-2
Keywords	covid19
Language	English
Publishing date	2020-05-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	80016-8
ISSN	1097-6868 ; 0002-9378
ISSN (online)	1097-6868
ISSN	0002-9378
DOI	10.1016/j.ajog.2020.04.039
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Article ; Online: Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

Cogan, Guillaume / Bourgon, Nicolas / Borghese, Roxana / Julien, Emmanuel / Jaquette, Aurélia / Stos, Bertrand / Achaiaa, Amale / Chuon, Sophie / Nitschke, Patrick / Fourrage, Cécile / Stirnemann, Julien / Boutaud, Lucile / Attie-Bitach, Tania

Molecular genetics & genomic medicine

2023 Volume 11, Issue 9, Page(s) e2219

Abstract: Introduction: CREBBP truncating mutations and deletions are responsible for the well-known Rubinstein-Taybi syndrome. Recently, a new, distinct CREBBP-linked syndrome has been described: missense mutations located at the 3' end of exon 30 and the 5' ... ...

Abstract	Introduction: CREBBP truncating mutations and deletions are responsible for the well-known Rubinstein-Taybi syndrome. Recently, a new, distinct CREBBP-linked syndrome has been described: missense mutations located at the 3' end of exon 30 and the 5' portion of exon 31 induce Menke-Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. To date, all diagnoses were made postnatally. Method and case report: Trio-whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28 weeks of gestation (WG). Results: WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke-Hennekam syndrome. Termination of pregnancy was performed at 32 WG. We further reviewed the prenatal signs of Menke-Hennekam syndrome already reported. Among the 35 patients reported and diagnosed postnatally up to this day, 15 presented recognizable prenatal signs, the most frequent being intra-uterine growth retardation, brain, and cardiovascular anomalies. Conclusion: Menke-Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of Menke-Hennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging.
MeSH term(s)	Pregnancy ; Female ; Humans ; Phenotype ; Exome Sequencing ; Mutation ; Rubinstein-Taybi Syndrome/genetics ; Mutation, Missense ; Menkes Kinky Hair Syndrome
Language	English
Publishing date	2023-06-23
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.2219
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