Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.

OBJECTIVE: Activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the pancreatic ATP-sensitive K(+) channel are the most common cause of permanent neonatal diabetes. In contrast to KCNJ11, where only dominant heterozygous mutations have been identified, recessiv...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Shield, J, Flanagan, SE, Mackay, D, Harries, L, Proks, P, Girard, C, Ashcroft, F, Temple, I, Ellard, S
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	2008

Những quyển sách tương tự

Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinaemic hypoglycaemia
Bằng: Sarah E Flanagan, et al.
Được phát hành: (2011-11-01)

A case of partial paternal uniparental isodisomy of chromosome 7 with no phenotypic abnormalities
Bằng: Fangfang liu, et al.
Được phát hành: (2025-01-01)

Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
Bằng: Xiufen Bu, et al.
Được phát hành: (2021-11-01)

Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype
Bằng: Xu Zhang, et al.
Được phát hành: (2021-10-01)

Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report
Bằng: Elizabeth R. Kerr, et al.
Được phát hành: (2018-12-01)

P288: Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies
Bằng: Allissia Gilmartin, et al.
Được phát hành: (2024-01-01)

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
Bằng: Emmanuelle Souzeau, et al.
Được phát hành: (2019-08-01)

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
Bằng: Proks, P, et al.
Được phát hành: (2006)

β-thalassemia major evolution from β-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15
Bằng: Jan-Gowth Chang, et al.
Được phát hành: (2008-06-01)

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major
Bằng: Cornelis L. Harteveld, et al.
Được phát hành: (2013-05-01)

A rare case of uniparental isodisomy of chromosome 19 with no phenotypic abnormalities
Bằng: Jieping Song, et al.
Được phát hành: (2021-03-01)

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
Bằng: Hane Lee, et al.
Được phát hành: (2025-01-01)

An ABCC8 nonsense mutation causing neonatal diabetes through altered transcript expression
Bằng: Flanagan, SE, et al.
Được phát hành: (2017)

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
Bằng: Ellard, S, et al.
Được phát hành: (2007)

Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus
Bằng: Hannah Bogardus, et al.
Được phát hành: (2014-09-01)

A rare case of complete uniparental isodisomy of chromosome 2 with no phenotypic abnormalities
Bằng: Jieping Song, et al.
Được phát hành: (2021-03-01)

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features
Bằng: Keiko Shimojima Yamamoto, et al.
Được phát hành: (2023-08-01)

Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities
Bằng: Chunjiao Yu, et al.
Được phát hành: (2022-04-01)

Prenatal diagnosis and genetic counseling of complete uniparental isodisomy of chromosome 3 with no phenotypic abnormalities
Bằng: Ju Zhao, et al.
Được phát hành: (2020-09-01)

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5
Bằng: Geun-Young Park, et al.
Được phát hành: (2019-10-01)

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
Bằng: Hua Wang, et al.
Được phát hành: (2021-10-01)

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
Bằng: Gloyn, A, et al.
Được phát hành: (2004)

P206: Chromosome 6 maternal uniparental isodisomy in a child with global developmental delay
Bằng: Joachim Kapalanga, et al.
Được phát hành: (2023-01-01)

Unilateral syndactyly, hemihypertrophy, and hyperpigmentation with mosaic 2q35 deletion
Bằng: Akhtar Ali, et al.
Được phát hành: (2023-01-01)

Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5
Bằng: Kaori Yamoto, et al.
Được phát hành: (2024-12-01)

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17
Bằng: Takeo Mukai, et al.
Được phát hành: (2024-07-01)

Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review
Bằng: Yuying Zhu, et al.
Được phát hành: (2025-03-01)

P666: Kagami-Ogata syndrome due to uniparental isodisomy 14 and a small supernumerary marker chromosome
Bằng: Anahita Mohseni Meybodi, et al.
Được phát hành: (2024-01-01)

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome
Bằng: Pengjiang Kang, et al.
Được phát hành: (2021-03-01)

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
Bằng: Flanagan, SE, et al.
Được phát hành: (2007)

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus
Bằng: Immacolata Andolfo, et al.
Được phát hành: (2020-07-01)

Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome
Bằng: Fenxia Li, et al.
Được phát hành: (2021-10-01)

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007)
Bằng: Flanagan, SE, et al.
Được phát hành: (2008)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
Bằng: Gloyn, A, et al.
Được phát hành: (2002)

A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing
Bằng: Huan Li, et al.
Được phát hành: (2023-02-01)

Erratum: Mutations in ATP-sensitive K+ cannel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (Diabetes (2007) 56 (1930-1937))
Bằng: Flanagan, SE, et al.
Được phát hành: (2008)

Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report
Bằng: Onyinye O. Okonkwo, et al.
Được phát hành: (2025-02-01)

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
Bằng: Benjamin M. Helm, et al.
Được phát hành: (2017-07-01)

P796: Prenatal diagnosis of a novel biallelic ARFGEF1-related disorder due to uniparental Isodisomy: A case report
Bằng: Julia Coltri, et al.
Được phát hành: (2024-01-01)

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.
Bằng: De Wet, H, et al.
Được phát hành: (2008)