Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?
Gene identification for X-linked dominant sporadic disorders is challenging because no extended families exist that can be studied by linkage analysis. Therefore, classic positional cloning approaches are not possible, and other methods have to be used to search for candidate genes. These conditions present the next challenge for disease-gene identification of Mendelian disorders. The various issues and difficulties involved, such as male lethality, X chromosome inactivation, and analysis of phenotypic similarities among different conditions are illustrated through discussion of three X-linked developmental disorders: microphthalmia with linear skin defects (MLS) syndrome, Aicardi syndrome, and Goltz syndrome (focal dermal hypoplasia).
Van den Veyver
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Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA. iveyver@bcm.tmc.edu
D000293:Adolescent; D000818:Animals; D001480:Basal Ganglia Diseases / Q000235:genetics* / Q000473:pathology; D002114:Calcinosis / Q000473:pathology; D003937:Diagnosis, Differential; D004195:Disease Models, Animal; D005489:Focal Dermal Hypoplasia / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D051379:Mice; D008850:Microphthalmos / Q000235:genetics* / Q000473:pathology; D012868:Skin Abnormalities; D013577:Syndrome