The genetics of hydatidiform moles: new lights on an ancient disease
Hydatidiform mole (HM) is a human pregnancy with no embryo but cystic degeneration of chorionic villi. The common form of this condition occurs in 1 in every 1500 pregnancies in western societies and at a higher incidence in some geographic regions and populations. Recurrent moles account for 2% of...
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Published in: | Clinical genetics Vol. 71; no. 1; pp. 25 - 34 |
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01-01-2007
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Abstract | Hydatidiform mole (HM) is a human pregnancy with no embryo but cystic degeneration of chorionic villi. The common form of this condition occurs in 1 in every 1500 pregnancies in western societies and at a higher incidence in some geographic regions and populations. Recurrent moles account for 2% of all molar cases and a few of them occur in more than one family member. By studying a familial form of recurrent moles, a recessive maternal locus responsible for this condition was mapped to 19q13.4 and causative mutations identified. The defective protein, NALP7, is part of the CATERPILLAR protein family with roles in pathogen‐induced inflammation and apoptosis. The exact role of NALP7 in the pathophysiology of molar pregnancies is unknown yet. NALP7 could have a role either in oogenesis or in the endometrium during trophoblast invasion and decidualization. In this review, we outlined recent advances in the field of HMs and reviewed the literature in the light of the new data. |
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AbstractList | Hydatidiform mole (HM) is a human pregnancy with no embryo but cystic degeneration of chorionic villi. The common form of this condition occurs in 1 in every 1500 pregnancies in western societies and at a higher incidence in some geographic regions and populations. Recurrent moles account for 2% of all molar cases and a few of them occur in more than one family member. By studying a familial form of recurrent moles, a recessive maternal locus responsible for this condition was mapped to 19q13.4 and causative mutations identified. The defective protein, NALP7, is part of the CATERPILLAR protein family with roles in pathogen‐induced inflammation and apoptosis. The exact role of NALP7 in the pathophysiology of molar pregnancies is unknown yet. NALP7 could have a role either in oogenesis or in the endometrium during trophoblast invasion and decidualization. In this review, we outlined recent advances in the field of HMs and reviewed the literature in the light of the new data. Slim R, Mehio A. The genetics of hydatidiform moles: new lights on an ancient disease. Clin Genet 2007: 71: 25-34. (C) Blackwell Munksgaard, 2007 Hydatidiform mole (HM) is a human pregnancy with no embryo but cystic degeneration of chorionic villi. The common form of this condition occurs in 1 in every 1500 pregnancies in western societies and at a higher incidence in some geographic regions and populations. Recurrent moles account for 2% of all molar cases and a few of them occur in more than one family member. By studying a familial form of recurrent moles, a recessive maternal locus responsible for this condition was mapped to 19q13.4 and causative mutations identified. The defective protein, NALP7, is part of the CATERPILLAR protein family with roles in pathogen-induced inflammation and apoptosis. The exact role of NALP7 in the pathophysiology of molar pregnancies is unknown yet. NALP7 could have a role either in oogenesis or in the endometrium during trophoblast invasion and decidualization. In this review, we outlined recent advances in the field of HMs and reviewed the literature in the light of the new data. [PUBLICATION ABSTRACT] |
Author | Mehio, A. Slim, R. |
Author_xml | – sequence: 1 givenname: R. surname: Slim fullname: Slim, R. email: rima.slim@muhc.mcgill.ca organization: Departments of Human Genetics – sequence: 2 givenname: A. surname: Mehio fullname: Mehio, A. organization: Department of Pathology, McGill University Health Center, Montreal H3G 1A4, Canada |
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Keywords | Human molar pregnancies Relapse Trophoblaste pathology Pregnancy disorders Disease Hydatidiform mole recurrent hydatidiform moles Family study Spontaneous familial hydatidiform moles NALP7 Inflammation Recurrent Placenta diseases Abortion Hydatidiform moles Light Tumor Genetics spontaneous abortions |
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Snippet | Hydatidiform mole (HM) is a human pregnancy with no embryo but cystic degeneration of chorionic villi. The common form of this condition occurs in 1 in every... Slim R, Mehio A. The genetics of hydatidiform moles: new lights on an ancient disease. Clin Genet 2007: 71: 25-34. (C) Blackwell Munksgaard, 2007 Hydatidiform... |
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SubjectTerms | Adaptor Proteins, Signal Transducing - genetics Biological and medical sciences Chromosomes, Human, Pair 19 - genetics Diseases of mother, fetus and pregnancy Epigenesis, Genetic - genetics familial hydatidiform moles Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Humans Hydatidiform Mole - epidemiology Hydatidiform Mole - genetics Hydatidiform Mole - pathology Hydatidiform moles inflammation Inheritance Patterns - genetics Medical genetics Medical research Medical sciences molar pregnancies Molecular and cellular biology Mutation - genetics NALP7 Pregnancy Pregnancy. Fetus. Placenta Protein Structure, Tertiary recurrent hydatidiform moles spontaneous abortions |
Title | The genetics of hydatidiform moles: new lights on an ancient disease |
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