Abstract:
:Mutations in the insulin receptor gene have been reported in cases of type A insulin resistance. We report herein two cases of type A insulin resistance, which involve some novel mutations. Case 1 is a heterozygote of the C253Y missense mutation and case 2 is a heterozygote of the Y864X nonsense mutation. In the C253Y missense mutation in exon 3, a cysteine residue is replaced with tyrosine in the cysteine-rich domain of the alpha subunit. The Y864X in exon 13 results in a truncated receptor, which is devoid of most of the beta subunit. This mutant receptor could not be expressed on a cell membrane since the transmembrane domain is missing. Other significant mutations were not found for the entire coding regions and splice/donor sites.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Osawa H,Nishimiya T,Ochi M,Niiya T,Onuma H,Kitamuro F,Kaino Y,Kida K,Makino Hdoi
10.1034/j.1399-0004.2001.590309.xsubject
Has Abstractpub_date
2001-03-01 00:00:00pages
194-7issue
3eissn
0009-9163issn
1399-0004pii
cge590309journal_volume
59pub_type
杂志文章abstract::Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal fo...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:1984-06-01 00:00:00