Cargando…

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

BACKGROUND: Deletions in the Xq22.3–Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME). The extrarenal biological and clinical...

Descripción completa

Detalles Bibliográficos
Autores principales:	Andreoletti, Gaia, Seaby, Eleanor G, Dewing, Jennifer M, O'Kelly, Ita, Lachlan, Katherine, Gilbert, Rodney D, Ennis, Sarah
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2017
Materias:	New Loci
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502304/ https://www.ncbi.nlm.nih.gov/pubmed/27811305 http://dx.doi.org/10.1136/jmedgenet-2016-104100

Ejemplares similares

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)

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)

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)

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

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
por: Hollstein, Ronja, et al.
Publicado: (2015)

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

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

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)

GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss
por: Xing, Guangqian, 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)

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)

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

Progressive myoclonic epilepsy with Fanconi syndrome
por: Seaby, Eleanor G, et al.
Publicado: (2016)

Hereditary Elliptocytosis with Pyropoikilocytosis
por: Bayhan, Turan, et al.
Publicado: (2016)

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm
por: Seaby, Eleanor G., et al.
Publicado: (2017)

Use of repeat anterior maxillary distraction to correct residual midface hypoplasia in cleft patients
por: Richardson, Sunil, et al.
Publicado: (2017)

Abstract 122: Internal Distraction Resulted in Improved Patient Reported Outcomes for Midface Hypoplasia
por: Hindin, David, et al.
Publicado: (2017)

Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome
por: Cha, Bong Kuen, et al.
Publicado: (2018)

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

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)

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)

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
por: Bertoli-Avella, Aida, 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)

Modified Lefort Distraction Osteogenesis for the Treatment of Nager Syndrome-Associated Midface Hypoplasia: Technique and Review
por: Simpson, Andrew M., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_ag66ufbgah00no0d9khn6tqd0v