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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1998-2-24
|
| pubmed:abstractText |
We describe three families with hypoglycemia caused by familial hyperinsulinism (HI) in whom vertical transmission of the disorder occurred, suggesting autosomal dominant (AD) inheritance. We therefore examined the relationship between the apparent AD disorder and the more common autosomal recessive (AR) form of HI, which has recently been linked to the sulfonylurea receptor on chromosome 11p15.1. The clinical features of the 11 patients with AD HI were milder than those seen in 14 patients with AR HI. Hypoglycemia was readily controlled with either diet alone or with diazoxide in 10 of 11 patients with AD HI but in none of those with the AR form. In one large pedigree, analysis of genomic DNA with polymorphic simple sequence repeat markers excluded linkage of AD HI to the SUR locus in a dominant manner. The possibility of linkage to the SUR locus could not be absolutely excluded in the two smaller pedigrees. None of the published mutations of the SUR gene identified in patients with AR HI were detected in the patients with the AD form. We conclude that the AD form of hyperinsulinism is phenotypically different from the AR variant. The identification of more families with this form of HI may make it possible to locate the responsible gene by the use of linkage analysis.
|
| pubmed:grant | |
| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
0022-3476
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
132
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
9-14
|
| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:9469993-Adolescent,
pubmed-meshheading:9469993-Adult,
pubmed-meshheading:9469993-Age of Onset,
pubmed-meshheading:9469993-Child,
pubmed-meshheading:9469993-Child, Preschool,
pubmed-meshheading:9469993-Chromosomes, Human, Pair 11,
pubmed-meshheading:9469993-DNA,
pubmed-meshheading:9469993-Female,
pubmed-meshheading:9469993-Genes, Dominant,
pubmed-meshheading:9469993-Genes, Recessive,
pubmed-meshheading:9469993-Genetic Linkage,
pubmed-meshheading:9469993-Humans,
pubmed-meshheading:9469993-Hyperinsulinism,
pubmed-meshheading:9469993-Hypoglycemia,
pubmed-meshheading:9469993-Infant,
pubmed-meshheading:9469993-Infant, Newborn,
pubmed-meshheading:9469993-Male,
pubmed-meshheading:9469993-Microsatellite Repeats,
pubmed-meshheading:9469993-Pedigree,
pubmed-meshheading:9469993-Phenotype
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.
|
| pubmed:affiliation |
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
|