Nature Search

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders

Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.

Joachim De Jonghe
Hyung Chul Kim
Gregory M. Findlay
ResearchOpen Access08 Apr 2026
Nature

P: 1-8
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Biallelic variants in RNU4-2 cause a recessive neurodevelopmental disorder that is phenotypically and molecularly distinct from dominant ReNU syndrome and associated with reduced RNU4-2 transcript levels, consistent with a loss-of-function mechanism.

Rocio Rius
Alexander J. M. Blakes
Nicola Whiffin
ResearchOpen Access08 Apr 2026
Nature Genetics

P: 1-13
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes of neurodevelopmental disorders with epilepsy.

Elsa Leitão
Amandine Santini
Caroline Nava
ResearchOpen Access30 Mar 2026
Nature Genetics

P: 1-16
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Homozygous loss-of-function variants in phospholipase A/acyltransferase 3 (PLAAT3) underlie a new lipodystrophy syndrome. Functional studies link PLAAT3 loss with peroxisome proliferator-activated receptor gamma (PPARγ)-mediated defects in white adipose tissue differentiation and function.

Nika Schuermans
Salima El Chehadeh
Bart Dermaut
Research02 Nov 2023
Nature Genetics

Volume: 55, P: 1929-1940
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

The protein SLITRK2 plays an important role in synaptic communication. This study identifies X-linked SLITRK2 variants that underlie neurodevelopmental disorders by impairing excitatory synapses.

Salima El Chehadeh
Kyung Ah Han
Ji Won Um
ResearchOpen Access15 Jul 2022
Nature Communications

Volume: 13, P: 1-19
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations

Valentina Muto
Giulia Fasano
Antonella Lauri
Research08 Jan 2026
European Journal of Human Genetics

Volume: 34, P: 438-443
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Karen J Low
Morad Ansari
Sarah F Smithson
ResearchOpen Access22 Mar 2017
European Journal of Human Genetics

Volume: 25, P: 552-559
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Salima El Chehadeh-Djebbar
Edward Blair
Laurence Faivre
Research28 Nov 2012
European Journal of Human Genetics

Volume: 21, P: 736-742
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

De novo mutations in MSL3 cause an X-linked syndrome affecting both males and females. MSL3 mutations reduce H4K16ac levels and lead to misregulation of cellular pathways involved in morphogenesis, cellular shape, and cell migration.

M. Felicia Basilicata
Ange-Line Bruel
Asifa Akhtar
Research17 Sept 2018
Nature Genetics

Volume: 50, P: 1442-1451
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Salima El Chehadeh
Wilhelmina S Kerstjens-Frederikse
Laurence Faivre
Research02 Nov 2016
European Journal of Human Genetics

Volume: 25, P: 43-51
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson
François Lecoquierre
Camille Charbonnier
ResearchOpen Access23 Oct 2023
European Journal of Human Genetics

Volume: 32, P: 190-199
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer
Michael Pusch
Vera M. Kalscheuer
ResearchOpen Access16 Nov 2022
Molecular Psychiatry

Volume: 28, P: 668-697
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud
Eric Chater-Diehl
Amélie Piton
Research03 Aug 2021
Genetics in Medicine

Volume: 23, P: 2150-2159
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi
Yoshinori Tsurusaki
Naomichi Matsumoto
Research17 Sept 2019
Journal of Human Genetics

Volume: 64, P: 1173-1186
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Aurélien Juven
Sophie Nambot
Laurence Faivre
Research18 Feb 2020
European Journal of Human Genetics

Volume: 28, P: 1044-1055
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Ash Zawerton
Cyril Mignot
Christel Depienne
Research03 Oct 2019
Genetics in Medicine

Volume: 22, P: 524-537
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat-Houari
Bruno Dumont
Isabelle Touitou
Research02 Dec 2015
European Journal of Human Genetics

Volume: 24, P: 992-1000
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Julien Thevenon
Céline Souchay
Laurence Faivre
Research21 Oct 2015
European Journal of Human Genetics

Volume: 24, P: 911-918
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

Angélique Quartier
Hélène Poquet
Amélie Piton
Research08 Feb 2017
European Journal of Human Genetics

Volume: 25, P: 423-431
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Sophie Nambot
Alice Masurel
Laurence Faivre
Research23 Sept 2015
European Journal of Human Genetics

Volume: 24, P: 830-837
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

Emilie Degrolard-Courcet
Joanna Sokolowska
Laurence Faivre
Research04 Dec 2013
European Journal of Human Genetics

Volume: 22, P: 979-987
Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

Stéphanie Baert-Desurmont
Françoise Charbonnier
Thierry Frebourg
ResearchOpen Access15 Apr 2015
European Journal of Human Genetics

Volume: 24, P: 99-105
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Laura Mary
Amélie Piton
Irina Giurgea
Research26 Apr 2018
European Journal of Human Genetics

Volume: 26, P: 996-1006
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Nicolas Bourgon
Aurore Garde
Christel Thauvin-Robinet
Research16 May 2022
European Journal of Human Genetics

Volume: 30, P: 967-975
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz
Judith St-Onge
Jean-Baptiste Rivière
Research02 Feb 2017
Genetics in Medicine

Volume: 19, P: 989-997
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot
Julien Thevenon
Christel Thauvin-Robinet
Research02 Nov 2017
Genetics in Medicine

Volume: 20, P: 645-654
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Ange-Line Bruel
Sophie Nambot
Christel Thauvin-Robinet
Research23 Jun 2019
European Journal of Human Genetics

Volume: 27, P: 1519-1531

Search

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

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