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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2010-4-14
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pubmed:abstractText |
Background/Aims: Mutations in the acid-labile subunit (ALS) gene (IGFALS) have been associated with circulating insulin-like growth factor I (IGF-I) deficiency and short stature. Whether severe pubertal delay is also part of the phenotype remains controversial due to the small number of cases reported. We report 2 children with a history of growth failure due to novel IGFALS mutations. Methods: The growth hormone receptor gene (GHR) and IGFALS were analyzed by direct sequencing. Ternary complex formation was studied by size exclusion chromatography. Results: Two boys of 13.3 and 10.6 years, with pubertal stages 2 and 1, had mild short stature (-3.2 and -2.8 SDS, respectively) and a biochemical profile suggestive of growth hormone resistance. No defects were identified in the GHR. Patient 1 was homozygous for the IGFALS missense mutation P73L. Patient 2 was a compound heterozygote for the missense mutation L134Q and a novel GGC to AG substitution at position 546-548 (546-548delGGCinsAG). The latter causes a frameshift and the appearance of a premature stop codon. Size exclusion chromatography showed no peaks corresponding to ternary and binary complexes in either patient. Conclusion: Screening of the IGFALS is important in children with short stature associated with low serum IGF-I, IGFBP-3 and ALS.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-11431138,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-11822481,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-13679528,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-1379671,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-15713716,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-16085161,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-16507628,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-1692332,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-17213728,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-17389811,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-17726072,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-18303074,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-18463107,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-19129715,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-2476804,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-2558477,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-4838166,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-5785179,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20389102-7532612
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1663-2826
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2010 S. Karger AG, Basel.
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pubmed:issnType |
Electronic
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
328-34
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pubmed:dateRevised |
2011-7-27
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pubmed:meshHeading |
pubmed-meshheading:20389102-Adolescent,
pubmed-meshheading:20389102-Carrier Proteins,
pubmed-meshheading:20389102-Child,
pubmed-meshheading:20389102-Consanguinity,
pubmed-meshheading:20389102-Frameshift Mutation,
pubmed-meshheading:20389102-Glycoproteins,
pubmed-meshheading:20389102-Growth Disorders,
pubmed-meshheading:20389102-Heterozygote,
pubmed-meshheading:20389102-Homozygote,
pubmed-meshheading:20389102-Humans,
pubmed-meshheading:20389102-Insulin-Like Growth Factor Binding Protein 3,
pubmed-meshheading:20389102-Male,
pubmed-meshheading:20389102-Mutation, Missense
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pubmed:year |
2010
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pubmed:articleTitle |
Acid-labile subunit deficiency and growth failure: description of two novel cases.
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pubmed:affiliation |
Centre for Endocrinology, Queen Mary University of London, Barts and the London School of Medicine and Dentistry, London, UK.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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