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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2001-10-5
pubmed:abstractText
Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder of male sexual differentiation caused by mutations in the androgen receptor (AR) gene. A reliable genotype-phenotype correlation in these patients does not exist as yet. Here we report the molecular studies performed on eight individuals with AIS. Exon-specific polymerase chain reaction (PCR), single-strand conformation polymorphism, and sequencing analyses, were performed in exons 2 to 8 of the AR gene. In one case, total cellular RNA was extracted from genital skin fibroblasts and reverse transcriptase-PCR was performed. Six different point mutations leading to amino acid substitutions (P682T, Q711E, G743E, F827V, H874R, D879Y), one splice-junction mutation (g-->c at +5, exon 6/intron 6), and a missense mutation without amino acid substitution (S888S) were identified. All mutations, including a de novo mutation, were previously undescribed on the steroid binding domain. Of the eight mutations identified, four led to a complete female phenotype (codons 743, 827, 874 and the donor splice site +5), two were detected in phenotypic females with partial virilization (codons 682 and 711), and two were present in phenotypic male subjects with undervirilized external genitalia, thus indicating that all of these sites determine AR functional activity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
560-5
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:11587068-Adolescent, pubmed-meshheading:11587068-Androgen-Insensitivity Syndrome, pubmed-meshheading:11587068-Child, pubmed-meshheading:11587068-Child, Preschool, pubmed-meshheading:11587068-Exons, pubmed-meshheading:11587068-Female, pubmed-meshheading:11587068-Fibroblasts, pubmed-meshheading:11587068-Genotype, pubmed-meshheading:11587068-Humans, pubmed-meshheading:11587068-Infant, pubmed-meshheading:11587068-Introns, pubmed-meshheading:11587068-Male, pubmed-meshheading:11587068-Mutation, pubmed-meshheading:11587068-Mutation, Missense, pubmed-meshheading:11587068-Phenotype, pubmed-meshheading:11587068-Point Mutation, pubmed-meshheading:11587068-Polymerase Chain Reaction, pubmed-meshheading:11587068-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:11587068-Receptors, Androgen, pubmed-meshheading:11587068-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:11587068-Sex Determination Processes
pubmed:year
2001
pubmed:articleTitle
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
pubmed:affiliation
Department of Reproductive Biology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México D.F., México.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't