Cargando…

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous mis...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chinen, Yasutsugu, Yanagi, Kumiko, Nakamura, Sadao, Nakayama, Noriko, Kamiya, Motoko, Nakayashiro, Mami, Kaname, Tadashi, Naritomi, Kenji, Nakanishi, Koichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162975/ https://www.ncbi.nlm.nih.gov/pubmed/32337051 http://dx.doi.org/10.1038/s41439-020-0098-y

Ejemplares similares

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation
por: Chinen, Yasutsugu, et al.
Publicado: (2019)

Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in ASXL3
por: Chinen, Yasutsugu, et al.
Publicado: (2017)

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
por: Chinen, Yasutsugu, et al.
Publicado: (2022)

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
por: Ganaha, Akira, et al.
Publicado: (2013)

A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1
por: Yanagi, Kumiko, et al.
Publicado: (2021)

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder
por: Yanagi, Kumiko, et al.
Publicado: (2012)

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
por: Kaname, Tadashi, et al.
Publicado: (2017)

Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report
por: Yonamine, Tomoko, et al.
Publicado: (2020)

Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study
por: Chinen, Yasutsugu, et al.
Publicado: (2017)

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
por: Laugel-Haushalter, Virginie, et al.
Publicado: (2019)

Novel NARS2 variant causing leigh syndrome with normal lactate levels
por: Tanaka, Ryosuke, et al.
Publicado: (2022)

CAcTμS: High-Voltage CMOS Monolithic Active Pixel Sensor for tracking and time tagging of charged particles
por: Guilloux, F., et al.
Publicado: (2018)

Qishen Yiqi dripping pills for chronic ischaemic heart failure: results of the CACT‐IHF randomized clinical trial
por: Mao, Jingyuan, et al.
Publicado: (2020)

Novel CFTR Activator Cact-3 Ameliorates Ocular Surface Dysfunctions in Scopolamine-Induced Dry Eye Mice
por: Jeon, Dongkyu, et al.
Publicado: (2022)

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
por: Chinen, Yasutsugu, et al.
Publicado: (2017)

Association of a homozygous GCK missense mutation with mild diabetes
por: Marucci, Antonella, et al.
Publicado: (2019)

Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation
por: Yasuda, Rei, et al.
Publicado: (2020)

MBOAT1 homozygous missense variant causes nonobstructive azoospermia
por: Wan, Yang-Yang, et al.
Publicado: (2021)

A rare homozygous missense mutation of COL7A1 in a Vietnamese family
por: Duong, Nguyen Thuy, et al.
Publicado: (2022)

Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family
por: Duong, Nguyen Thuy, et al.
Publicado: (2022)

X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene
por: Kawano-Matsuda, Fumika, et al.
Publicado: (2021)

Intellectual disability associated with a homozygous missense mutation in THOC6
por: Beaulieu, Chandree L, et al.
Publicado: (2013)

Male hypogonadism caused by a homozygous missense mutation of the LHB gene
por: Chen, Jie, et al.
Publicado: (2021)

Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant
por: Ganaha, Akira, et al.
Publicado: (2019)

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
por: Bouwkamp, Christian G., et al.
Publicado: (2018)

Sacs R272C missense homozygous mice develop an ataxia phenotype
por: Larivière, Roxanne, et al.
Publicado: (2019)

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings
por: Mizobuchi, Kei, et al.
Publicado: (2020)

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
por: Yamamoto-Shimojima, Keiko, et al.
Publicado: (2021)

Dynamic QT response to cold‐water face immersion in long‐QT syndrome type 3
por: Takahashi, Kazuhiro, et al.
Publicado: (2020)

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family
por: Elsayed, Liena E. O., et al.
Publicado: (2020)

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease
por: Beaman, Glenda M., et al.
Publicado: (2019)

A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans
por: Xie, Xuefeng, et al.
Publicado: (2022)

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
por: Nagy, Sara, et al.
Publicado: (2022)

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
por: van der Ven, Amelie T., et al.
Publicado: (2018)

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
por: Çağlayan, Ahmet Okay, et al.
Publicado: (2016)

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
por: Bigoni, Stefania, et al.
Publicado: (2019)

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
por: Russell, Bianca E., et al.
Publicado: (2019)

A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease
por: Zeiad, Rawah K H M, et al.
Publicado: (2021)

A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype
por: Schultz-Rogers, Laura, et al.
Publicado: (2021)

Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment
por: Kakar, Mohib Ullah, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_eo7kluc2budj5gqh6ievn6j3p9