{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T23:11:13Z","timestamp":1781133073562,"version":"3.54.1"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2008,4]]},"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p>Constitutional delay of growth and puberty (CDGP) is a common clinical condition that may be inherited as an autosomal dominant, recessive or X-linked trait. However, single-gene defects underlying CDGP have not yet been identified. A small number of children (to date 10) with modest growth failure and in the majority delayed puberty, a phenotype similar to that of CDGP, have been reported to carry mutations in the IGF acid labile subunit (<jats:italic>IGFALS<\/jats:italic>) gene which encodes the ALS, a part of the ternary complex carrying IGF-I in the circulation. The aim of our study was to screen a well-characterised CDGP cohort exhibiting a range of growth retardation and pubertal delay for pathogenic sequence variants in<jats:italic>IGFALS<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design and methods<\/jats:title><jats:p>We used denaturing high performance liquid chromatography (dHPLC) to screen for<jats:italic>IGFALS<\/jats:italic>mutations in DNA samples from 90 children (80 males) with CDGP of predominantly White European origin. DNA fragments generating abnormal waveforms were directly sequenced.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No<jats:italic>IGFALS<\/jats:italic>mutation was identified in the coding sequences or exon\u2013intron boundaries in our CDGP cohort. One abnormal waveform pattern in dHPLC in 15 children with CDGP was found to represent a recognised synonymous single-nucleotide polymorphism of the coding transcript in the second exon in residue 210 of<jats:italic>IGFALS<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>IGFALS<\/jats:italic>sequence variants are unlikely to be a common association with pubertal delay in children with CDGP.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-07-0769","type":"journal-article","created":{"date-parts":[[2008,3,24]],"date-time":"2008-03-24T20:38:31Z","timestamp":1206391111000},"page":"473-477","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":17,"title":["Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene."],"prefix":"10.1093","volume":"158","author":[{"given":"I","family":"Banerjee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Hanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Perveen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Whatmore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G C","family":"Black","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P E","family":"Clayton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"issue":"12","key":"1_17360614","doi-asserted-by":"publisher","first-page":"5581","DOI":"10.1210\/jc.2002-020862","volume":"87","author":"Sedlmeyer","year":"2002","journal-title":"Journal of Clinical Endocrinology &amp; 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