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Article ; Online: A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.

Cross, Laura A / McWalter, Kirsty / Keller-Ramey, Jennifer / Henderson, Lindsay B / Amudhavalli, Shivarajan M

2020 Volume 29, Issue 3, Page(s) 161–164

MeSH term(s)	Gonads/embryology ; Humans ; Infant ; Infant, Newborn ; Male ; Mosaicism/embryology ; Mutation ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/genetics ; RNA Helicases/genetics ; RNA Helicases/metabolism
Chemical Substances	DHX30 protein, human (EC 2.7.7.-) ; RNA Helicases (EC 3.6.4.13)
Language	English
Publishing date	2020-01-15
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000316
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Article ; Online: Intellectual disability syndrome associated with a homozygous founder variant in

Journal of medical genetics

2024 Volume 61, Issue 3, Page(s) 289–293

Abstract: Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to ... ...

Abstract	Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to NDDs. However, the involvement of SGSM (small G protein signalling modulator), another member of the RAS family, in NDDs has not been previously documented. Methods: Proband-only or trio exome sequencing was performed on DNA samples obtained from affected individuals and available family members. The variant prioritisation process focused on identifying rare deleterious variants. International collaboration aided in the identification of additional affected individuals. Results: We identified 13 patients from 8 families of Ashkenazi Jewish origin who all carried the same homozygous frameshift variant in Conclusions: An Ashkenazi Jewish homozygous founder variant in
MeSH term(s)	Humans ; Intellectual Disability/genetics ; Jews/genetics ; Homozygote ; Syndrome ; Neurodevelopmental Disorders
Language	English
Publishing date	2024-02-21
Publishing country	England
Document type	Journal Article
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2023-109504
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Article ; Online: Biallelic Loss-of-Function Variants in

Hirsch, Yoel / Chung, Wendy K / Novoselov, Sergey / Weimer, Louis H / Rossor, Alexander / LeDuc, Charles A / McPartland, Amanda J / Cabrera, Ernesto / Ekstein, Josef / Scher, Sholem / Nelson, Rick F / Schiavo, Giampietro / Henderson, Lindsay B / Booth, Kevin T A

International journal of molecular sciences

2023 Volume 24, Issue 10

Abstract: Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome sequencing and targeted segregation analysis, we investigated the genetic etiology of ... ...

Abstract	Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome sequencing and targeted segregation analysis, we investigated the genetic etiology of peripheral neuropathy and hearing loss in a large Ashkenazi Jewish family. Moreover, we assessed the production of the candidate protein via western blotting of lysates from fibroblasts from an affected individual and an unaffected control. Pathogenic variants in known disease genes associated with hearing loss and peripheral neuropathy were excluded. A homozygous frameshift variant in the
MeSH term(s)	Humans ; Adaptor Proteins, Signal Transducing/genetics ; Cytoskeletal Proteins/genetics ; Deafness/genetics ; Hearing Loss/genetics ; Pedigree ; Peripheral Nervous System Diseases/genetics ; Phenotype
Chemical Substances	Adaptor Proteins, Signal Transducing ; BICD1 protein, human ; Cytoskeletal Proteins
Language	English
Publishing date	2023-05-17
Publishing country	Switzerland
Document type	Case Reports ; Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms24108897
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Article ; Online: De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.

Platzer, Konrad / Sticht, Heinrich / Bupp, Caleb / Ganapathi, Mythily / Pereira, Elaine M / Le Guyader, Gwenaël / Bilan, Frederic / Henderson, Lindsay B / Lemke, Johannes R / Taschenberger, Holger / Brose, Nils / Abou Jamra, Rami / Wojcik, Sonja M

Annals of neurology

2022 Volume 92, Issue 6, Page(s) 958–973

Abstract: Objective: Rare inherited missense variants in SLC32A1, the gene that encodes the vesicular gamma-aminobutyric acid (GABA) transporter, have recently been shown to cause genetic epilepsy with febrile seizures plus. We aimed to clarify if de novo ... ...

Abstract	Objective: Rare inherited missense variants in SLC32A1, the gene that encodes the vesicular gamma-aminobutyric acid (GABA) transporter, have recently been shown to cause genetic epilepsy with febrile seizures plus. We aimed to clarify if de novo missense variants in SLC32A1 can also cause epilepsy with impaired neurodevelopment. Methods: Using exome sequencing, we identified four individuals with a developmental and epileptic encephalopathy and de novo missense variants in SLC32A1. To assess causality, we performed functional evaluation of the identified variants in a murine neuronal cell culture model. Results: The main phenotype comprises moderate-to-severe intellectual disability, infantile-onset epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder. In silico modeling and functional analyses reveal that three of these variants, which are located in helices that line the putative GABA transport pathway, result in reduced quantal size, consistent with impaired filling of synaptic vesicles with GABA. The fourth variant, located in the vesicular gamma-aminobutyric acid N-terminus, does not affect quantal size, but increases presynaptic release probability, leading to more severe synaptic depression during high-frequency stimulation. Thus, variants in vesicular gamma-aminobutyric acid can impair GABAergic neurotransmission through at least two mechanisms, by affecting synaptic vesicle filling and by altering synaptic short-term plasticity. Interpretation: This work establishes de novo missense variants in SLC32A1 as a novel cause of a developmental and epileptic encephalopathy. SUMMARY FOR SOCIAL MEDIA IF PUBLISHED: @platzer_k @lemke_johannes @RamiJamra @Nirgalito @GeneDx The SLC family 32 Member 1 (SLC32A1) is the only protein identified to date, that loads gamma-aminobutyric acid (GABA) and glycine into synaptic vesicles, and is therefore also known as the vesicular GABA transporter (VGAT) or vesicular inhibitory amino acid transporter (VIAAT). Rare inherited missense variants in SLC32A1, the gene that encodes VGAT/vesicular inhibitory amino acid transporter, have recently been shown to cause genetic epilepsy with febrile seizures plus. We aimed to clarify if de novo missense variants in SLC32A1 can also cause epilepsy with impaired neurodevelopment. We report on four individuals with de novo missense variants in SLC32A1 and a developmental and epileptic encephalopathy with infantile onset epilepsy. We establish causality of the variants via in silico modeling and their functional evaluation in a murine neuronal cell culture model. SLC32A1 variants represent a novel genetic etiology in neurodevelopmental disorders with epilepsy and a new GABA-related disease mechanism. ANN NEUROL 2022;92:958-973.
MeSH term(s)	Animals ; Mice ; Seizures, Febrile ; Epilepsy, Generalized/genetics ; Epilepsy/genetics ; Synaptic Transmission/genetics ; gamma-Aminobutyric Acid/metabolism ; Amino Acid Transport Systems/metabolism
Chemical Substances	gamma-Aminobutyric Acid (56-12-2) ; Amino Acid Transport Systems
Language	English
Publishing date	2022-09-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.26485
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Zs.A 1370: 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 478: Show issues

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Article ; Online: Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

American journal of medical genetics. Part A

2023 Volume 191, Issue 7, Page(s) 1935–1941

Abstract: Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053). Clinical features of this disorder ... ...

Abstract	Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053). Clinical features of this disorder include microcephaly, cognitive impairment, dysmorphic features, and variable ophthalmological anomalies including chorioretinopathy. Microcephaly can be recognized prenatally and visual impairment becomes evident during the first year of life. The clinical presentation resembles the findings in some acquired conditions such as congenital toxoplasmosis and cytomegalovirus infections; thus, it is important to recognize and diagnose this syndrome in view of its impact on patient health management and familial reproductive plans. To date, only seven molecularly confirmed patients from five unrelated families have been reported. We report an additional four unrelated patients with TUBGCP6 variants including one prenatal diagnosis and review the clinical phenotypes and genotypes of all the known cases. This report expands the molecular and phenotypic spectrum of TUBGCP6 and includes additional prenatal findings associated with MCCRP1.
MeSH term(s)	Pregnancy ; Humans ; Female ; Microcephaly/diagnosis ; Microcephaly/genetics ; Microcephaly/complications ; Retinal Diseases ; Genotype ; Phenotype ; Microtubule-Associated Proteins/genetics
Chemical Substances	TUBGCP6 protein, human ; Microtubule-Associated Proteins
Language	English
Publishing date	2023-04-09
Publishing country	United States
Document type	Review ; Case Reports ; 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.63203
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Zs.A 1376/A: Show issues

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Article ; Online: Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.

Webb, Bryn D / Evans, Anthony / Naidich, Thomas P / M Bird, Lynne / Parikh, Sumit / Fernandez Garcia, Meilin / Henderson, Lindsay B / Millan, Francisca / Si, Yue / Brennand, Kristen J / Hung, Peter / Rucker, Janet C / Wheeler, Patricia G / Schadt, Eric E

Human mutation

2021 Volume 42, Issue 6, Page(s) 685–693

Abstract: De novo, heterozygous, loss-of-function variants were identified in Pou domain, class 4, transcription factor 1 (POU4F1) via whole-exome sequencing in four independent probands presenting with ataxia, intention tremor, and hypotonia. POU4F1 is expressed ... ...

Abstract	De novo, heterozygous, loss-of-function variants were identified in Pou domain, class 4, transcription factor 1 (POU4F1) via whole-exome sequencing in four independent probands presenting with ataxia, intention tremor, and hypotonia. POU4F1 is expressed in the developing nervous system, and mice homozygous for null alleles of Pou4f1 exhibit uncoordinated movements with newborns being unable to successfully right themselves to feed. Head magnetic resonance imaging of the four probands was reviewed and multiple abnormalities were noted, including significant cerebellar vermian atrophy and hypertrophic olivary degeneration in one proband. Transcriptional activation of the POU4F1 p.Gln306Arg protein was noted to be decreased when compared with wild type. These findings suggest that heterozygous, loss-of-function variants in POU4F1 are causative of a novel ataxia syndrome.
MeSH term(s)	Adult ; Ataxia/complications ; Ataxia/diagnosis ; Ataxia/genetics ; Ataxia/pathology ; Child ; Child, Preschool ; Female ; Haploinsufficiency ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle Hypotonia/complications ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Mutation, Missense ; Retrospective Studies ; Syndrome ; Transcription Factor Brn-3A/genetics ; Tremor/complications ; Tremor/diagnosis ; Tremor/genetics ; United States ; Whole Exome Sequencing ; Young Adult
Chemical Substances	POU4F1 protein, human ; Transcription Factor Brn-3A
Language	English
Publishing date	2021-04-15
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.24201
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Article ; Online: Heterozygous pathogenic variants involving

Journal of medical genetics

2022 Volume 60, Issue 5, Page(s) 498–504

Abstract: Background: Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia ... ...

Abstract	Background: Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia and short stature. Runt-related transcription factor 2 ( Methods: The cohort consists of eight subjects from five unrelated families partially identified through GeneMatcher. Exome or genome sequencing was applied and in two subjects the effect of the variant was investigated at RNA level. Results: In each subject a heterozygous pathogenic variant in Conclusion: We confirm the previously suggested locus heterogeneity for CCD by identifying five pathogenic variants in
MeSH term(s)	Humans ; Base Sequence ; Cleidocranial Dysplasia/genetics ; Cleidocranial Dysplasia/pathology ; Codon, Nonsense ; Core Binding Factor Alpha 1 Subunit/genetics ; Core Binding Factor beta Subunit/genetics ; Exons
Chemical Substances	CBFB protein, human ; Codon, Nonsense ; Core Binding Factor Alpha 1 Subunit ; Core Binding Factor beta Subunit
Language	English
Publishing date	2022-10-14
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2022-108739
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Article ; Online: Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K

Gripp, Karen W / Smithson, Sarah F / Scurr, Ingrid J / Baptista, Julia / Majumdar, Anirban / Pierre, Germaine / Williams, Maggie / Henderson, Lindsay B / Wentzensen, Ingrid M / McLaughlin, Heather / Leeuwen, Lisette / Simon, Marleen E H / van Binsbergen, Ellen / Dinulos, Mary Beth P / Kaplan, Julie D / McRae, Anne / Superti-Furga, Andrea / Good, Jean-Marc / Kutsche, Kerstin

European journal of human genetics : EJHG

2021 Volume 29, Issue 9, Page(s) 1384–1395

Abstract: Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively, underlies a broad spectrum of human disorders affecting the central nervous system, heart, ... ...

Abstract	Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively, underlies a broad spectrum of human disorders affecting the central nervous system, heart, kidney, and other organs. While the association of epilepsy and intellectual disability (ID) with variants affecting function in genes encoding potassium channels is well known, GOF missense variants in K
MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adolescent ; Adult ; Channelopathies/genetics ; Channelopathies/pathology ; Child ; Craniofacial Abnormalities/genetics ; Craniofacial Abnormalities/pathology ; Ether-A-Go-Go Potassium Channels/genetics ; Female ; Fibromatosis, Gingival/genetics ; Fibromatosis, Gingival/pathology ; Gain of Function Mutation ; Hallux/abnormalities ; Hallux/pathology ; Hand Deformities, Congenital/genetics ; Hand Deformities, Congenital/pathology ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Nails, Malformed/genetics ; Nails, Malformed/pathology ; Phenotype ; Potassium Channels/genetics ; Small-Conductance Calcium-Activated Potassium Channels/genetics ; Thumb/abnormalities ; Thumb/pathology
Chemical Substances	Ether-A-Go-Go Potassium Channels ; KCNH1 protein, human ; KCNK4 protein, human ; KCNN3 protein, human ; Potassium Channels ; Small-Conductance Calcium-Activated Potassium Channels
Language	English
Publishing date	2021-02-16
Publishing country	England
Document type	Case Reports ; Journal Article ; 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/s41431-021-00818-9
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Zs.A 3589: Show issues

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Article ; Online: Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Clinical genetics

2020 Volume 99, Issue 2, Page(s) 259–268

Abstract: The CAMTA1-associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 individuals with CAMTA1 variants: nine ...

Abstract	The CAMTA1-associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 individuals with CAMTA1 variants: nine previously unreported (likely) pathogenic variants comprising one missense, four frameshift and four nonsense variants, and one missense variant of unknown significance. Six patients were diagnosed following whole exome sequencing and four individuals with exome-based targeted panel analysis. Most of them present with developmental delay, manifesting in speech and motor delay. Other frequent findings are hypotonia, cognitive impairment, cerebellar dysfunction, oculomotor abnormalities, and behavioral problems. Feeding problems occur more frequently than previously observed. In addition, we present a systematic review of 19 previously published individuals with causal variants, including copy number, truncating, and missense variants. We note a tendency of more severe cognitive impairment and recurrent dysmorphic features in individuals with a copy number variant. Pathogenic variants are predominantly observed in and near the N- and C- terminal functional domains. Clinical heterogeneity is observed, but 3'-terminal variants seem to associate with less pronounced cerebellar dysfunction.
MeSH term(s)	Adolescent ; Calcium-Binding Proteins/genetics ; Child ; Child, Preschool ; Cognition Disorders/genetics ; DNA Mutational Analysis ; Developmental Disabilities/genetics ; Female ; Humans ; Male ; Nervous System Diseases/genetics ; Phenotype ; Trans-Activators/genetics
Chemical Substances	CAMTA1 protein, human ; Calcium-Binding Proteins ; Trans-Activators
Language	English
Publishing date	2020-11-23
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Systematic Review
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13874
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Article ; Online: The impact of chromosomal microarray on clinical management: a retrospective analysis.

Henderson, Lindsay B / Applegate, Carolyn D / Wohler, Elizabeth / Sheridan, Molly B / Hoover-Fong, Julie / Batista, Denise A S

Genetics in medicine : official journal of the American College of Medical Genetics

2014 Volume 16, Issue 9, Page(s) 657–664

Abstract: Purpose: Chromosomal microarray has been widely adopted as the first-tier clinical test for individuals with multiple congenital anomalies, developmental delay, intellectual disability, and autism spectrum disorders. Although chromosomal microarray has ... ...

Abstract	Purpose: Chromosomal microarray has been widely adopted as the first-tier clinical test for individuals with multiple congenital anomalies, developmental delay, intellectual disability, and autism spectrum disorders. Although chromosomal microarray has been extensively shown to provide a higher diagnostic yield than conventional cytogenetic methods, some health insurers refuse to provide coverage for this test, claiming that it is experimental and does not affect patients' clinical management. Methods: We retrospectively reviewed the electronic medical records of all patients who had abnormal chromosomal microarray findings reported by our laboratory over a 3-year period and quantified the management recommendations made in response to these results. Results: Abnormal chromosomal microarray findings were reported for 12.7% of patients (227/1,780). For patients with clinical follow-up notes available, these results had management implications for 54.5% of patients in the entire abnormal cohort (102/187) and for 42.1% of patients referred for isolated neurodevelopmental disorders (16/38). Recommendations included pharmacological treatment, cancer-related screening or exclusion of screening, contraindications, and referrals for further evaluation. Conclusion: These results empirically demonstrate the clinical utility of chromosomal microarray by providing evidence that management was directly affected for the majority of patients in our cohort with abnormal chromosomal microarray findings.
MeSH term(s)	Child ; Child, Preschool ; Chromosomes, Human ; Disease Management ; Early Detection of Cancer ; Female ; Follow-Up Studies ; Genetic Testing/methods ; Humans ; Infant ; Male ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Referral and Consultation ; Retrospective Studies
Language	English
Publishing date	2014-03-13
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/gim.2014.18
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