Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Apert syndrome

Apert syndrome is an autosomal dominant inherited disorder. Its causes include mutations in the FGFR2 gene (Fibroblast Growth Factor Receptor 2). The FGFR2 gene, located on chromosome 10, locus 10q26, encodes a transmembrane receptor with an extracellular region consisting of three immunoglobulin-like IgI, IgII and IgIII domains, a hydrophobic transmembrane segment and a cytoplasmic tyrosine kinase1 domain. The immunoglobulin domains correspond to the expression of exons 8, 9 and 10, where mutations are detected in most patients (25-75%) (the most common mutations are P253R and S252W). Symptoms of the disease include craniosynostosis, facial midline hypoplasia, hypoplastic hands and feet, syndactyly, cardiac abnormalities, renal failure and in some cases developmental abnormalities of the uterus.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány Idegen nyelvű

Our book was written with the intention of filling a gap. It is the work of specialists - university lecturers, researchers, clinicians - who come across the described symptoms in their daily practice.

Many previously published publications deal with the gynecological pathologies discussed in the volume, but from the perspective of genetics as an etiological factor, focusing on the genetic background of pathological conditions and women's diseases, no book has yet been published. Nowadays, science is developing rapidly, and almost all diseases are subjected to genetic testing during research. For this reason, only those pathologies will be presented for which the tests so far have clearly confirmed the genetic background, that is, those pathologies for which the possibility of a genetic cause has arisen, but cannot yet be clearly proven, do not form the material of the book.

We recommend the book primarily to health professionals, geneticists, obstetricians and gynecologists, pedoatric gynecologists, and pediatricians, and those preparing for special exams. Medical students and midwifery students interested in the topic can find important information in it, and it can also be useful for "non-specialists".

Hivatkozás: https://mersz.hu/beke-genetic-background-of-gynecological-diseases//

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