Cargando…

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5

Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was diagnosed with HSAN 2B caused due to a novel frameshift mutation (NM_001034850....

Descripción completa

Detalles Bibliográficos
Autores principales:	Park, Geun-Young, Jang, Dae-Hyun, Lee, Dong-Woo, Jang, Ja-Hyun, Joo, Joungsu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6837162/ https://www.ncbi.nlm.nih.gov/pubmed/31737055 http://dx.doi.org/10.3389/fgene.2019.01085

Ejemplares similares

Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant
por: Gutierrez‐Quintana, Rodrigo, et al.
Publicado: (2021)

Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report
por: Kerr, Elizabeth R., et al.
Publicado: (2018)

Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype
por: Zhang, Xu, et al.
Publicado: (2021)

Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
por: Bu, Xiufen, et al.
Publicado: (2021)

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features
por: Berland, Siren, et al.
Publicado: (2021)

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia
por: Kohl, Susanne, et al.
Publicado: (2021)

Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia
por: Flanagan, S. E., et al.
Publicado: (2011)

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
por: Souzeau, Emmanuelle, et al.
Publicado: (2019)

Hereditary and Sensory Autonomic Neuropathies
por: Khaledi, Mojdeh, et al.
Publicado: (2012)

Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome
por: Wang, Huiping, et al.
Publicado: (2023)

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features
por: Shimojima Yamamoto, Keiko, et al.
Publicado: (2023)

Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities
por: Yu, Chunjiao, et al.
Publicado: (2022)

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
por: Wang, Hua, et al.
Publicado: (2021)

Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy
por: Kunta, Avaneesh R., et al.
Publicado: (2022)

Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies
por: Li, Qianqian, et al.
Publicado: (2022)

The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer
por: Li, Sanrong, et al.
Publicado: (2018)

Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy
por: Kocaay, Pınar, et al.
Publicado: (2016)

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation
por: Ponzi, Emanuela, et al.
Publicado: (2019)

A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder
por: Daniels, Eileen G., et al.
Publicado: (2019)

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1
por: Xiao, Changrui, et al.
Publicado: (2021)

Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy
por: Zavarzadeh, Parisima Ghaffarian, et al.
Publicado: (2022)

Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy
por: Bug, Stefanie, et al.
Publicado: (2014)

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy
por: Soler-Palacín, Pere, et al.
Publicado: (2018)

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome
por: Kang, Pengjiang, et al.
Publicado: (2021)

Keratoconus associated with hereditary sensory and autonomic neuropathy II
por: Shah, Zalak, et al.
Publicado: (2022)

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus
por: Andolfo, Immacolata, et al.
Publicado: (2020)

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4
por: Delvecchio, Maurizio, et al.
Publicado: (2021)

A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing
por: Li, Huan, et al.
Publicado: (2022)

Hereditary sensory and autonomic neuropathies: types II, III, and IV
por: Axelrod, Felicia B, et al.
Publicado: (2007)

A case of hereditary sensory autonomic neuropathy type IV
por: Prashanth, G. P., et al.
Publicado: (2012)

A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China
por: Dai, Cong‐Ling, et al.
Publicado: (2017)

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing
por: Zhuang, Jianlong, et al.
Publicado: (2022)

Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view
por: Chen, Yanming, et al.
Publicado: (2023)

Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype
por: LI, NIU, et al.
Publicado: (2016)

Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report
por: Venci, Anna, et al.
Publicado: (2017)

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
por: Helm, Benjamin M., et al.
Publicado: (2017)

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort
por: Prasov, Lev, et al.
Publicado: (2020)

Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation
por: Rotthier, Annelies, et al.
Publicado: (2009)

Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III
por: Macefield, Vaughan G., et al.
Publicado: (2014)

A rare case of hereditary sensory and autonomic neuropathy type II
por: Mamytova, Elmira, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_9cjcbd40ciemrmk0bukqaffh2r