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...

書誌詳細
主要な著者:	Shield, J, Flanagan, SE, Mackay, D, Harries, L, Proks, P, Girard, C, Ashcroft, F, Temple, I, Ellard, S
フォーマット:	Journal article
言語:	English
出版事項:	2008

類似資料

Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinaemic hypoglycaemia
著者:: Sarah E Flanagan, 等
出版事項: (2011-11-01)

A case of partial paternal uniparental isodisomy of chromosome 7 with no phenotypic abnormalities
著者:: Fangfang liu, 等
出版事項: (2025-01-01)

Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
著者:: Xiufen Bu, 等
出版事項: (2021-11-01)

Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype
著者:: Xu Zhang, 等
出版事項: (2021-10-01)

Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report
著者:: Elizabeth R. Kerr, 等
出版事項: (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
著者:: Allissia Gilmartin, 等
出版事項: (2024-01-01)

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
著者:: Emmanuelle Souzeau, 等
出版事項: (2019-08-01)

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
著者:: Proks, P, 等
出版事項: (2006)

β-thalassemia major evolution from β-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15
著者:: Jan-Gowth Chang, 等
出版事項: (2008-06-01)

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major
著者:: Cornelis L. Harteveld, 等
出版事項: (2013-05-01)

A rare case of uniparental isodisomy of chromosome 19 with no phenotypic abnormalities
著者:: Jieping Song, 等
出版事項: (2021-03-01)

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
著者:: Hane Lee, 等
出版事項: (2025-01-01)

An ABCC8 nonsense mutation causing neonatal diabetes through altered transcript expression
著者:: Flanagan, SE, 等
出版事項: (2017)

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
著者:: Ellard, S, 等
出版事項: (2007)

Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus
著者:: Hannah Bogardus, 等
出版事項: (2014-09-01)

A rare case of complete uniparental isodisomy of chromosome 2 with no phenotypic abnormalities
著者:: Jieping Song, 等
出版事項: (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
著者:: Keiko Shimojima Yamamoto, 等
出版事項: (2023-08-01)

Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities
著者:: Chunjiao Yu, 等
出版事項: (2022-04-01)

Prenatal diagnosis and genetic counseling of complete uniparental isodisomy of chromosome 3 with no phenotypic abnormalities
著者:: Ju Zhao, 等
出版事項: (2020-09-01)

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5
著者:: Geun-Young Park, 等
出版事項: (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
著者:: Hua Wang, 等
出版事項: (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.
著者:: Gloyn, A, 等
出版事項: (2004)

P206: Chromosome 6 maternal uniparental isodisomy in a child with global developmental delay
著者:: Joachim Kapalanga, 等
出版事項: (2023-01-01)

Unilateral syndactyly, hemihypertrophy, and hyperpigmentation with mosaic 2q35 deletion
著者:: Akhtar Ali, 等
出版事項: (2023-01-01)

Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5
著者:: Kaori Yamoto, 等
出版事項: (2024-12-01)

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17
著者:: Takeo Mukai, 等
出版事項: (2024-07-01)

Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review
著者:: Yuying Zhu, 等
出版事項: (2025-03-01)

P666: Kagami-Ogata syndrome due to uniparental isodisomy 14 and a small supernumerary marker chromosome
著者:: Anahita Mohseni Meybodi, 等
出版事項: (2024-01-01)

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome
著者:: Pengjiang Kang, 等
出版事項: (2021-03-01)

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
著者:: Flanagan, SE, 等
出版事項: (2007)

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus
著者:: Immacolata Andolfo, 等
出版事項: (2020-07-01)

Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome
著者:: Fenxia Li, 等
出版事項: (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)
著者:: Flanagan, SE, 等
出版事項: (2008)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
著者:: Gloyn, A, 等
出版事項: (2002)

A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing
著者:: Huan Li, 等
出版事項: (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))
著者:: Flanagan, SE, 等
出版事項: (2008)

Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report
著者:: Onyinye O. Okonkwo, 等
出版事項: (2025-02-01)

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
著者:: Benjamin M. Helm, 等
出版事項: (2017-07-01)

P796: Prenatal diagnosis of a novel biallelic ARFGEF1-related disorder due to uniparental Isodisomy: A case report
著者:: Julia Coltri, 等
出版事項: (2024-01-01)

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.
著者:: De Wet, H, 等
出版事項: (2008)