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Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients
Author(s) -
Riqué Susanna,
Nogués Carme,
Ibàñez Lourdes,
Victoria Marcos María,
Ferragut Juan,
Carrascosa Antonio,
Potau Neus
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.570110.x
Subject(s) - missense mutation , splice site mutation , exon , compound heterozygosity , genetics , insulin resistance , biology , mutation , endocrinology , acanthosis nigricans , medicine , insulin , gene , alternative splicing
Type A insulin resistance syndrome is characterized by the association of ovarian hyperandrogenism, acanthosis nigricans, and severe insulin resistance. We have identified three novel mutant alleles of the insulin receptor gene in 3 patients with type A syndrome, a severe form of insulin resistance. Two of the patients were sisters (A1, A2), 1 of them was a compound heterozygote for a mutation at the 3′‐splice acceptor site of intron 21 (AG→AA), and a missense mutation Val140Leu in exon 2. Her sister was a simple heterozygote for the 3′‐splice acceptor mutation. The third patient (A3) was heterozygous for the missense mutation Ala1028Val in exon 17, in the consensus sequence for ATP binding.