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Article ; Online: Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

2024 Volume 69, Page(s) 104932

Abstract: Purpose: Incomplete penetrance is observed for most monogenic diseases. However, for neurodevelopmental disorders, the interpretation of single and multi-nucleotide variants (SNV/MNVs) is usually based on the paradigm of complete penetrance.: Method: ...

Abstract	Purpose: Incomplete penetrance is observed for most monogenic diseases. However, for neurodevelopmental disorders, the interpretation of single and multi-nucleotide variants (SNV/MNVs) is usually based on the paradigm of complete penetrance. Method: From 2020 to 2022, we proposed a collaboration study with the French molecular diagnosis for intellectual disability network. The aim was to recruit families for whom the index case, diagnosed with a neurodevelopmental disorder, was carrying a pathogenic or likely pathogenic variant for an OMIM morbid gene and inherited from an asymptomatic parent. Grandparents were analyzed when available for segregation study. Results: We identified 12 patients affected by a monogenic neurodevelopmental disorder caused by likely pathogenic or pathogenic variant (SNV/MNV) inherited from an asymptomatic parent. These genes were usually associated with de novo variants. The patients carried different variants (1 splice-site variant, 4 nonsense and 7 frameshift) in 11 genes: CAMTA1, MBD5, KMT2C, KMT2E, ZMIZ1, MN1, NDUFB11, CUL3, MED13, ARID2 and RERE. Grandparents have been tested in 6 families, and each time the variant was confirmed de novo in the healthy carrier parent. Conclusion: Incomplete penetrance for SNV and MNV in neurodevelopmental disorders might be more frequent than previously thought. This point is crucial to consider for interpretation of variants, family investigation, genetic counseling, and prenatal diagnosis. Molecular mechanisms underlying this incomplete penetrance still need to be identified.
Language	English
Publishing date	2024-03-05
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2024.104932
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Zs.A 84/9: Show issues

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Article ; Online: Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.

Schütz, Katharina / Schmidt, Axel / Schwerk, Nicolaus / Renz, Diane Miriam / Gerard, Benedicte / Schaefer, Elise / Antal, Maria Cristina / Peters, Sophia / Griese, Matthias / Rapp, Christina K / Engels, Hartmut / Cremer, Kirsten / Bergmann, Anke Katharina / Schmidt, Gunnar / Auber, Bernd / Kamp, Jan C / Laenger, Florian / von Hardenberg, Sandra

Pediatric pulmonology

2023 Volume 58, Issue 11, Page(s) 3095–3105

Abstract: Introduction: Fibroblast growth factor 10 (FGF10) is a signaling molecule with a well-established role for lung branching morphogenesis. Rare heterozygous, deleterious variants in the FGF10 gene are known causes of the lacrimo-auriculo-dento-digital ( ... ...

Abstract	Introduction: Fibroblast growth factor 10 (FGF10) is a signaling molecule with a well-established role for lung branching morphogenesis. Rare heterozygous, deleterious variants in the FGF10 gene are known causes of the lacrimo-auriculo-dento-digital (LADD) syndrome and aplasia of lacrimal and salivary glands. Previous studies indicate that pathogenic variants in FGF10 can cause childhood Interstitial Lung Disease (chILD) due to severe diffuse developmental disorders of the lung, but detailed reports on clinical presentation and follow-up of affected children are lacking. Methods: We describe four children with postnatal onset of chILD and heterozygous variants in FGF10, each detected by exome or whole genome sequencing. Results: All children presented with postnatal respiratory failure. Two children died within the first 2 days of life, one patient died at age of 12 years due to right heart failure related to severe pulmonary hypertension (PH) and one patient is alive at age of 6 years, but still symptomatic. Histopathological analysis of lung biopsies from the two children with early postpartum demise revealed diffuse developmental disorder representing acinar dysplasia and interstitial fibrosis. Sequential biopsies of the child with survival until the age of 12 years revealed alveolar simplification and progressive interstitial fibrosis. Discussion: Our report extends the phenotype of FGF10-related disorders to early onset chILD with progressive interstitial lung fibrosis and PH. Therefore, FGF10-related disorder should be considered even without previously described syndromic stigmata in children with postnatal respiratory distress, not only when leading to death in the neonatal period but also in case of persistent respiratory complaints and PH.
MeSH term(s)	Child ; Humans ; Infant, Newborn ; Fibroblast Growth Factor 10/genetics ; Fibrosis ; Lacrimal Apparatus Diseases/genetics ; Lung ; Lung Diseases, Interstitial/genetics
Chemical Substances	FGF10 protein, human ; Fibroblast Growth Factor 10
Language	English
Publishing date	2023-08-10
Publishing country	United States
Document type	Journal Article
ZDB-ID	632784-9
ISSN	1099-0496 ; 8755-6863
ISSN (online)	1099-0496
ISSN	8755-6863
DOI	10.1002/ppul.26627
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Zs.A 2143: Show issues

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Article ; Online: Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE).

Lamy, Florian / Valenti-Hirsch, Maria-Paola / Gauer, Lucas / Gérard, Bénédicte / Obeid, Mohamed / de Saint-Martin, Anne / Dinkelacker, Vera / Baer, Sarah / Hirsch, Edouard

Epilepsy & behavior reports

2022 Volume 19, Page(s) 100555

Abstract: Generalized Onset with Focal Evolution" (GOFE) is an underrecognized seizure type defined by an evolution from generalized onset to focal activity during the same ictal event. We aimed to discuss electroclinical aspects of GOFE and to emphasize its link ...

Abstract	"Generalized Onset with Focal Evolution" (GOFE) is an underrecognized seizure type defined by an evolution from generalized onset to focal activity during the same ictal event. We aimed to discuss electroclinical aspects of GOFE and to emphasize its link with Genetic Generalized Epilepsy (GGE). Patients were identified retrospectively over 10 years, using the video-EEG data base from the Epilepsy Unit of Strasbourg University Hospital. GOFE was defined, as previously reported, from an EEG point of view with an evolution from generalized onset to focal activity during the same ictal event. Three male patients with GOFE were identified among 51 patients with recorded tonic-clonic seizures. Ages at onset of seizures were 13, 20 and 22 years. Focal clinical features (motor asymmetric phenomenology) could be identified. EEG showed generalized interictal discharges with focal evolution of various localization. Four seizures were recorded characterized by 2-3 s of generalized abnormalities followed by focal (parieto-occipital or frontal) discharges. There were initially uncontrolled seizures with lamotrigine, but all patients reported a good outcome with valproate monotherapy. We emphasize that GOFE presents many similarities with GGE. Recognition of the GOFE entity could bring a therapeutic interest avoiding misdiagnosis of focal epilepsy and consequently inappropriate use of narrow spectrum anti-seizure medicine.
Language	English
Publishing date	2022-05-30
Publishing country	United States
Document type	Journal Article
ISSN	2589-9864
ISSN (online)	2589-9864
DOI	10.1016/j.ebr.2022.100555
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Article: Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study.

Frontiers in genetics

2022 Volume 12, Page(s) 766964

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2022-02-01
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2021.766964
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Article ; Online: A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.

Marx, David / Dupuis, Arnaud / Eckly, Anita / Molitor, Anne / Olagne, Jérôme / Touchard, Guy / Kaaki, Sihem / Ory, Cécile / Faller, Anne-Laure / Gérard, Bénédicte / Cotter, Melanie / Westerberg, Lisa / Keszei, Marton / Moulin, Bruno / Gachet, Christian / Caillard, Sophie / Bahram, Seiamak / Carapito, Raphaël

Blood advances

2022 Volume 6, Issue 18, Page(s) 5279–5284

Abstract: While loss-of-function variants in the WAS gene are associated with Wiskott-Aldrich syndrome and lead to microthrombocytopenia, gain-of-function variants of WAS are associated with X-linked neutropenia (XLN) and the absence of microthrombocytopenia. Only ...

Abstract	While loss-of-function variants in the WAS gene are associated with Wiskott-Aldrich syndrome and lead to microthrombocytopenia, gain-of-function variants of WAS are associated with X-linked neutropenia (XLN) and the absence of microthrombocytopenia. Only a few XLN families have been reported so far, and their platelet phenotype was not described in detail. To date, no renal involvement was described in XLN. In the present study, we report exome sequencing of individuals from 3 generations of a family with a dominant disease combining neutropenia, macrothrombocytopenia, and renal failure. We identified a heterozygous missense gain-of-function variant in the WAS gene (c.881T>C, p.I294T) that segregates with the disease and is already known to cause XLN. There was no pathogenic variant in MYH9, TUBB1, or ACTN1. This is the first report of a WAS gain-of-function variant associated with both the hematological phenotype of XLN (neutropenia, macrothrombocytopenia) and renal disease (proteinuria, renal failure) with glomerular tip lesion hyalinosis and actin condensations in effaced podocytes foot processes.
MeSH term(s)	Actins/genetics ; Gain of Function Mutation ; Hearing Loss, Sensorineural ; Humans ; Mutation ; Myosin Heavy Chains/genetics ; Neutropenia/genetics ; Renal Insufficiency ; Thrombocytopenia/congenital ; Wiskott-Aldrich Syndrome/genetics ; Wiskott-Aldrich Syndrome Protein/genetics
Chemical Substances	Actins ; MYH9 protein, human ; Wiskott-Aldrich Syndrome Protein ; Myosin Heavy Chains (EC 3.6.4.1)
Language	English
Publishing date	2022-04-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2021006789
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Article ; Online: Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

Mary, Laura / Nourisson, Elsa / Feger, Claire / Laugel, Vincent / Chaigne, Denys / Keren, Boris / Afenjar, Alexandra / Billette, Thierry / Trost, Detlef / Cieuta-Walti, Cécile / Gerard, Bénédicte / Piton, Amélie / Schaefer, Elise

American journal of medical genetics. Part A

2021 Volume 185, Issue 6, Page(s) 1803–1815

Abstract: High-throughput sequencing (HTS) improved the molecular diagnosis in individuals with intellectual deficiency (ID) and helped to broaden the phenotype of previously known disease-causing genes. We report herein four unrelated patients with isolated ID, ... ...

Abstract	High-throughput sequencing (HTS) improved the molecular diagnosis in individuals with intellectual deficiency (ID) and helped to broaden the phenotype of previously known disease-causing genes. We report herein four unrelated patients with isolated ID, carriers of a likely pathogenic variant in KCNQ2, a gene usually implicated in benign familial neonatal seizures (BFNS) or early onset epileptic encephalopathy (EOEE). Patients were diagnosed by targeted HTS or exome sequencing. Pathogenicity of the variants was assessed by multiple in silico tools. Patients' ID ranged from mild to severe with predominance of speech disturbance and autistic features. Three of the four variants disrupted the same amino acid. Compiling all the pathogenic variants previously reported, we observed a strong overlap between variants causing EOEE, isolated ID, and BFNS and an important intra-familial phenotypic variability, although missense variants in the voltage-sensing domain and the pore are significantly associated to EOEE (p < 0.01, Fisher test). Thus, pathogenic variants in KCNQ2 can be associated with isolated ID. We did not highlight strong related genotype-phenotype correlations in KCNQ2-related disorders. A second genetic hit, a burden of rare variants, or other extrinsic factors may explain such a phenotypic variability. However, it is of interest to study encephalopathy genes in non-epileptic ID patients.
MeSH term(s)	Channelopathies/genetics ; Channelopathies/pathology ; Child ; Child, Preschool ; Electroencephalography ; Epilepsy/genetics ; Epilepsy/pathology ; Epilepsy, Benign Neonatal/genetics ; Epilepsy, Benign Neonatal/pathology ; Female ; Genetic Association Studies ; High-Throughput Nucleotide Sequencing ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; KCNQ2 Potassium Channel/genetics ; Male ; Mutation/genetics ; Potassium/metabolism
Chemical Substances	KCNQ2 Potassium Channel ; KCNQ2 protein, human ; Potassium (RWP5GA015D)
Language	English
Publishing date	2021-03-23
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62181
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Zs.A 1376/A: Show issues

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Article ; Online: Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.

Human genetics

2022 Volume 141, Issue 2, Page(s) 283–293

Abstract: GRIA3 at Xq25 encodes glutamate ionotropic receptor AMPA type 3 (GluA3), a subunit of postsynaptic glutamate-gated ion channels mediating neurotransmission. Hemizygous loss-of-function (LOF) variants in GRIA3 cause a neurodevelopmental disorder (NDD) in ... ...

Abstract	GRIA3 at Xq25 encodes glutamate ionotropic receptor AMPA type 3 (GluA3), a subunit of postsynaptic glutamate-gated ion channels mediating neurotransmission. Hemizygous loss-of-function (LOF) variants in GRIA3 cause a neurodevelopmental disorder (NDD) in male individuals. Here, we report a gain-of-function (GOF) variant at GRIA3 in a male patient. We identified a hemizygous de novo missense variant in GRIA3 in a boy with an NDD: c.1844C > T (p.Ala615Val) using whole-exome sequencing. His neurological signs, such as hypertonia and hyperreflexia, were opposite to those in previous cases having LOF GRIA3 variants. His seizures and hypertonia were ameliorated by carbamazepine, inhibiting glutamate release from presynapses. Patch-clamp recordings showed that the human GluA3 mutant (p.Ala615Val) had slower desensitization and deactivation kinetics. A fly line expressing a human GluA3 mutant possessing our variant and the Lurcher variant, which makes ion channels leaky, showed developmental defects, while one expressing a mutant possessing either of them did not. Collectively, these results suggest that p.Ala615Val has GOF effects. GRIA3 GOF variants may cause an NDD phenotype distinctive from that of LOF variants, and drugs suppressing glutamatergic neurotransmission may ameliorate this phenotype. This study should help in refining the clinical management of GRIA3-related NDDs.
MeSH term(s)	Amino Acid Substitution ; Animals ; Animals, Genetically Modified ; Carbamazepine/therapeutic use ; Child, Preschool ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Excitatory Amino Acid Antagonists/therapeutic use ; Gain of Function Mutation ; HEK293 Cells ; Humans ; Male ; Mutant Proteins/chemistry ; Mutant Proteins/genetics ; Mutant Proteins/metabolism ; Mutation, Missense ; Neurodevelopmental Disorders/drug therapy ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/metabolism ; Patch-Clamp Techniques ; Phenotype ; Receptors, AMPA/chemistry ; Receptors, AMPA/genetics ; Receptors, AMPA/metabolism ; Recombinant Proteins/chemistry ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism
Chemical Substances	Excitatory Amino Acid Antagonists ; Mutant Proteins ; Receptors, AMPA ; Recombinant Proteins ; glutamate receptor ionotropic, AMPA 3 ; Carbamazepine (33CM23913M)
Language	English
Publishing date	2022-01-15
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-021-02416-7
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Zs.A 256: Show issues

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Article ; Online: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.

Rinaldi, Berardo / Ge, Yu-Han / Freri, Elena / Tucci, Arianna / Granata, Tiziana / Estienne, Margherita / Sun, Jia-Hui / Gérard, Bénédicte / Bayat, Allan / Efthymiou, Stephanie / Gervasini, Cristina / Shi, Yun Stone / Houlden, Henry / Marchisio, Paola / Milani, Donatella

Neurogenetics

2021 Volume 23, Issue 1, Page(s) 27–35

Abstract: AMPA-type glutamate receptors (AMPARs) are postsynaptic ionotropic receptors which mediate fast excitatory currents. AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 which are encoded by genes GRIA1-4. Increasing ... ...

Abstract	AMPA-type glutamate receptors (AMPARs) are postsynaptic ionotropic receptors which mediate fast excitatory currents. AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 which are encoded by genes GRIA1-4. Increasing evidence support the role of pathogenic variants in GRIA1-4 genes as causative for syndromic intellectual disability (ID). We report an Italian pedigree where some male individuals share ID, seizures and facial dysmorphisms. The index subject was referred for severe ID, myoclonic seizures, cerebellar signs and short stature. Whole exome sequencing identified a novel variant in GRIA3, c.2360A > G, p.(Glu787Gly). The GRIA3 gene maps to chromosome Xq25 and the c.2360A > G variant was transmitted by his healthy mother. Subsequent analysis in the family showed a segregation pattern compatible with the causative role of this variant, further supported by preliminary functional insights. We provide a detailed description of the clinical evolution of the index subjects and stress the relevance of myoclonic seizures and cerebellar syndrome as cardinal features of his presentation.
MeSH term(s)	Cerebellum/abnormalities ; Child ; Developmental Disabilities ; Humans ; Intellectual Disability/genetics ; Male ; Nervous System Malformations ; Pedigree ; Status Epilepticus
Language	English
Publishing date	2021-11-03
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1339887-8
ISSN	1364-6753 ; 1364-6745
ISSN (online)	1364-6753
ISSN	1364-6745
DOI	10.1007/s10048-021-00666-1
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Article ; Online: X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.

Bousquet, Idriss / Bozon, Muriel / Castellani, Valérie / Touraine, Renaud / Piton, Amélie / Gérard, Bénédicte / Guibaud, Laurent / Sanlaville, Damien / Edery, Patrick / Saugier-Veber, Pascale / Putoux, Audrey

Neurogenetics

2021 Volume 22, Issue 1, Page(s) 43–51

Abstract: Pathogenic variants in L1CAM, the gene encoding the L1 cell adhesion molecule, are responsible for a wide clinical spectrum including X-linked hydrocephalus with stenosis of the Sylvius aqueduct, MASA syndrome (mental retardation, aphasia, shuffling gait, ...

Abstract	Pathogenic variants in L1CAM, the gene encoding the L1 cell adhesion molecule, are responsible for a wide clinical spectrum including X-linked hydrocephalus with stenosis of the Sylvius aqueduct, MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), and a form of spastic paraplegia (SPG1). A moderate phenotype with mild intellectual disability (ID) and X-linked partial corpus callosum agenesis (CCA) has only been related to L1CAM in one family. We report here a second family, including 5 patients with mild to moderate ID and partial CCA without signs usually associated with L1CAM pathogenic variations (such as hydrocephalus, pyramidal syndrome, thumb adductus, aphasia). We identified a previously unreported c.3226A > C transversion leading to a p.Thr1076Pro amino acid substitution in the fifth fibronectin type III domain (FnIII) of the protein which co-segregates with the phenotype within the family. We performed in vitro assays to assess the pathogenic status of this variation. First, the expression of the novel p.Thr1076Pro mutant in COS7 cells resulted in endoplasmic reticulum (ER) retention and reduced L1CAM cell surface expression, which is expected to affect both L1CAM-mediated cell-cell adhesion and neurite growth. Second, immunoblotting techniques showed that the immature form of the L1CAM protein was increased, indicating that this variation led to a lack of maturation of the protein. ID associated with CCA is not a common clinical presentation of L1CAM pathogenic variants. Genome-wide analyses will identify such variations and it is important to acknowledge this atypical phenotype.
MeSH term(s)	Agenesis of Corpus Callosum/diagnosis ; Agenesis of Corpus Callosum/genetics ; Cerebral Aqueduct/abnormalities ; Female ; Gene Deletion ; Genetic Diseases, X-Linked/genetics ; Genome-Wide Association Study ; Humans ; Hydrocephalus/genetics ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Mutation/genetics ; Neural Cell Adhesion Molecule L1/genetics ; Pedigree ; Young Adult
Chemical Substances	L1CAM protein, human ; Neural Cell Adhesion Molecule L1
Language	English
Publishing date	2021-01-07
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1339887-8
ISSN	1364-6753 ; 1364-6745
ISSN (online)	1364-6753
ISSN	1364-6745
DOI	10.1007/s10048-020-00629-y
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Article ; Online: Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.

Neurogenetics

2021 Volume 23, Issue 1, Page(s) 81

Language	English
Publishing date	2021-11-26
Publishing country	United States
Document type	Published Erratum
ZDB-ID	1339887-8
ISSN	1364-6753 ; 1364-6745
ISSN (online)	1364-6753
ISSN	1364-6745
DOI	10.1007/s10048-021-00678-x
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