Cargando…

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

BACKGROUND: The genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative genetic lesions in two families in which eig...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hollstein, Ronja, Parry, David A, Nalbach, Lisa, Logan, Clare V, Strom, Tim M, Hartill, Verity L, Carr, Ian M, Korenke, Georg C, Uppal, Sandeep, Ahmed, Mushtaq, Wieland, Thomas, Markham, Alexander F, Bennett, Christopher P, Gillessen-Kaesbach, Gabriele, Sheridan, Eamonn G, Kaiser, Frank J, Bonthron, David T
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2015
Materias:	New Loci
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717446/ https://www.ncbi.nlm.nih.gov/pubmed/26424145 http://dx.doi.org/10.1136/jmedgenet-2015-103344

Ejemplares similares

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia
por: Watson, Christopher M, et al.
Publicado: (2016)

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
por: Zong, Liang, et al.
Publicado: (2015)

GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss
por: Xing, Guangqian, et al.
Publicado: (2017)

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
por: Hunt, David, et al.
Publicado: (2014)

HACE1 deficiency leads to structural and functional neurodevelopmental defects
por: Nagy, Vanja, et al.
Publicado: (2019)

Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss
por: Gao, Xue, et al.
Publicado: (2018)

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
por: Benincá, Cristiane, et al.
Publicado: (2021)

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
por: Li, Jingyun, et al.
Publicado: (2011)

Mutations in TMEM231 cause Meckel–Gruber syndrome
por: Shaheen, Ranad, et al.
Publicado: (2013)

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
por: Onoufriadis, Alexandros, et al.
Publicado: (2014)

Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
por: Zhang, Xin, et al.
Publicado: (2012)

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
por: Perrault, Isabelle, et al.
Publicado: (2015)

Mutations in HECW2 are associated with intellectual disability and epilepsy
por: Halvardson, Jonatan, et al.
Publicado: (2016)

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head
por: Mah, Wayne, et al.
Publicado: (2016)

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
por: Andreoletti, Gaia, et al.
Publicado: (2017)

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis
por: Frosk, Patrick, et al.
Publicado: (2017)

Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia
por: Kovalskaia, Valeriia A., et al.
Publicado: (2022)

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
por: Bertoli-Avella, Aida, et al.
Publicado: (2022)

Clinical application of exome sequencing in undiagnosed genetic conditions
por: Need, Anna C, et al.
Publicado: (2012)

SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia
por: Guo, Hui, et al.
Publicado: (2014)

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension
por: Kerstjens-Frederikse, Wilhelmina S, et al.
Publicado: (2013)

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
por: Flex, Elisabetta, et al.
Publicado: (2013)

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
por: de Lange, Iris M, et al.
Publicado: (2016)

XRCC2 mutation causes meiotic arrest, azoospermia and infertility
por: Yang, Yongjia, et al.
Publicado: (2018)

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
por: Hamilton, Mark J, et al.
Publicado: (2018)

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
por: Nguyen, Thanh-Minh T, et al.
Publicado: (2017)

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome
por: Knapp, Karen M, et al.
Publicado: (2020)

Homozygous variants in SYCP2L cause premature ovarian insufficiency
por: He, Wen-Bin, et al.
Publicado: (2021)

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy
por: Fatemi, Nayeralsadat, et al.
Publicado: (2021)

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
por: Machado, Rajiv D, et al.
Publicado: (2022)

New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
por: Romanelli Tavares, Vanessa Luiza, et al.
Publicado: (2022)

Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis
por: Cornière, Nicolas, et al.
Publicado: (2022)

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
por: Falb, Ruth J, et al.
Publicado: (2023)

GLRA2 gene mutations cause high myopia in humans and mice
por: Tian, Qi, et al.
Publicado: (2023)

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
por: Beyltjens, Tessi, et al.
Publicado: (2023)

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features
por: Zaki, Maha S., et al.
Publicado: (2021)

Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families
por: Moudi, Mahdiyeh, et al.
Publicado: (2022)

A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
por: Ni, Min, et al.
Publicado: (2021)

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease
por: Gungor, Serdal, et al.
Publicado: (2020)

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
por: Mattioli, Francesca, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_bkhoduto7cbeah7lksn3d5o225