Mutations in the Sulfonylurea Receptor Gene in Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy
Abstract
Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion, is linked to chromosome 11p14-15.1. The newly cloned high-affinity sulfonylurea receptor ( SUR ) gene, a regulator of insulin secretion, was mapped to 11p15.1 by means of fluorescence in situ hybridization. Two separate SUR gene splice site mutations, which segregated with disease phenotype, were identified in affected individuals from nine different families. Both mutations resulted in aberrant processing of the RNA sequence and disruption of the putative second nucleotide binding domain of the SUR protein. Abnormal insulin secretion in PHHI appears to be caused by mutations in the SUR gene.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Loss-of-function mutations in KATP channel genes cause congenital hyperinsulinism because they result in permanent membrane depolarization and persistent insulin release.
“Loss-of-function mutations cause congenital hyperinsulinism because they result in permanent membrane depolarization and persistent insulin release (479, 644, 681).”
From Pancreatic β-Cell Electrical Activity and Insulin Secretion: Of Mice and Men (2018) · cites this paper as [681]
Cited by
Sorted by citations
Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0397-236 · Cited by 1,435 · see citing works
The human ATP-binding cassette (ABC) transporter superfamily
Dean, M., Hamon, Y., & Chimini, G. (2001) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)31588-1 · Cited by 1,302 · see citing works
Pancreatic β-Cell Electrical Activity and Insulin Secretion: Of Mice and Men
Rorsman, P., & Ashcroft, F. M. (2018) · Physiological Reviews · doi:10.1152/physrev.00008.2017 · Cited by 793 · see citing works
Association and Stoichiometry of KATP Channel Subunits
Clement, J. P., Kunjilwar, K., Gonzalez, G., Schwanstecher, M., Panten, U., Aguilar-Bryan, L., & Bryan, J. (1997) · Neuron · doi:10.1016/s0896-6273(00)80321-9 · Cited by 692 · see citing works
Self-citationNeurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia
Menni, F., de Lonlay, P., Sevin, C., Touati, G., Peigné, C., Barbier, V., Nihoul-Fékété, C., Saudubray, J.-M., & Robert, J.-J. (2001) · PEDIATRICS · doi:10.1542/peds.107.3.476 · Cited by 347 · see citing works
Duggirala, R., Blangero, J., Almasy, L., Dyer, T. D., Williams, K. L., Leach, R. J., O'Connell, P., & Stern, M. P. (1999) · The American Journal of Human Genetics · doi:10.1086/302316 · Cited by 337 · see citing works
The Inherited Basis of Diabetes Mellitus: Implications for the Genetic Analysis of Complex Traits
Florez, J. C., Hirschhorn, J., & Altshuler, D. (2003) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.4.070802.110436 · Cited by 329 · see citing works
Meier, J. J., Butler, A. E., Galasso, R., & Butler, P. C. (2006) · Diabetes Care · doi:10.2337/dc06-0392 · Cited by 249 · see citing works
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism
Kapoor, R. R., Flanagan, S. E., Arya, V. B., Shield, J. P., Ellard, S., & Hussain, K. (2013) · European Journal of Endocrinology · doi:10.1530/eje-12-0673 · Cited by 243 · see citing works
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders
Stanley, C. A. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3651 · Cited by 239 · see citing works
Ellard, S., Flanagan, S. E., Girard, C. A., Patch, A.-M., Harries, L. W., Parrish, A., Edghill, E. L., Mackay, D. J. G., Proks, P., Shimomura, K., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519174 · Cited by 215 · see citing works
Anlauf, M., Wieben, D., Perren, A., Sipos, B., Komminoth, P., Raffel, A., Kruse, M. L., Fottner, C., Knoefel, W. T., Mönig, H., et al. (2005) · American Journal of Surgical Pathology · doi:10.1097/01.pas.0000151617.14598.ae · Cited by 167 · see citing works
Miki, T., Nagashima, K., & Seino, S. (1999) · Journal of Molecular Endocrinology · doi:10.1677/jme.0.0220113 · Cited by 147 · see citing works
Højlund, K., Hansen, T., Lajer, M., Henriksen, J. E., Levin, K., Lindholm, J., Pedersen, O., & Beck-Nielsen, H. (2004) · Diabetes · doi:10.2337/diabetes.53.6.1592 · Cited by 130 · see citing works
Giri, D., Vignola, M. L., Gualtieri, A., Scagliotti, V., McNamara, P., Peak, M., Didi, M., Gaston-Massuet, C., & Senniappan, S. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx318 · Cited by 91 · see citing works
Hussain, K., Bryan, J., Christesen, H. T., Brusgaard, K., & Aguilar-Bryan, L. (2005) · Diabetes · doi:10.2337/diabetes.54.10.2946 · Cited by 54 · see citing works
Self-citationNoninsulinoma Pancreatogenous Hypoglycemia Syndrome: A Rare Case of Adult-onset Nesidioblastosis
TSUJINO, M., SUGIYAMA, T., NISHIDA, K., TAKADA, Y., TAKANISHI, K., ISHIZAWA, M., & HIRATA, Y. (2005) · Internal Medicine · doi:10.2169/internalmedicine.44.843 · Cited by 24 · see citing works
- Authors
- Thomas, P. M., Cote, G. J., Wohllk, N., Haddad, B., Mathew, P. M., Rabl, W., Aguilar-Bryan, L., Gagel, R. F., & Bryan, J.
- Affiliations
- The University of Texas MD Anderson Cancer Center (US)
- Section of Endocrinology, Department of Medical Specialties, University of Texas M. D. Anderson Cancer Center, Houston, TX 77030, USA.
- Baylor College of Medicine (US)
- Dhahran Health Center (SA)
- TUM Klinikum (DE)
- Departments of Cell Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
- Venue
- Science
- Published
- 1995-04-21
- Volume
- 268
- Issue
- 5209
- Pages
- 426-429
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1986381180
- Cited by
- 806
- References
- 0
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 13 · 2023: 13 · 2022: 15 · 2021: 16 · 2020: 13 · 2019: 19 · 2018: 13 · 2017: 17 · 2016: 15 · 2015: 22 · 2014: 26 · 2013: 21 · 2012: 18
- FWCI
- 56.70
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (DK44311, R01DK038146, R01DK044311, DK38146)
- Topics
- Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Keywords
- sulfonylurea receptor, splice site mutation, insulin secretion regulation, nucleotide-binding domain, autosomal recessive disorder, gene mapping
- MeSH terms
- Insulin Secretion, Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 11, DNA Mutational Analysis, Genotype, Humans, Hyperinsulinism, Hypoglycemia, Infant, Insulin, Molecular Sequence Data, Mutation, Pancreatic Diseases, Phenotype, Receptors, Drug, RNA Splicing, Sulfonylurea Compounds, Potassium Channels, Point Mutation, DNA, Complementary, ATP-Binding Cassette Transporters, Potassium Channels, Inwardly Rectifying, Sulfonylurea Receptors
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
