Autosomal dominant inheritance with sex‐limited manifestation: An unusual mode of transmission in humans and animals. Issue 3 (20th December 2022)

• Record Type: Journal Article
• Authors: Happle, Rudolf; Eyerich, Kilian
• Is Part Of: American journal of medical genetics. Volume 191:Issue 3(2023)
• Page Start: 684
• Page End: 689
• Publication Date: 2022-12-20
• Subjects: autosomal dominant -- female‐limited hereditary lymphedema of the CELSR1 type -- male‐limited precocious puberty -- sex‐limited inheritance -- sex‐limited inheritance in animals -- white lentiginosis of Grosshans; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.63073
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Autosomal dominant, sex‐limited inheritance is a distinct mode of transmission that should not be conflated with X‐linked inheritance. From animal studies, we know that sex‐limited inheritance implies the chance to "turn off" some genes in either males or females, in order to meliorate the phenotype, for example, by improving the fecundity. In this way, sex‐limited genes play an important role in the evolution of diverse species of animals. In human genetics, however, the biological significance of sex‐limited genes is unknown until today. When screening the literature, we found, thus far, three human examples of sex‐limited transmission. Autosomal dominant, male‐limited inheritance has meticulously been studied in a particular form of precocious puberty. Limitation to females was described in autosomal dominant lymphedema of the CESLR1 type, being underpinned by convincing molecular findings. Another example is white lentiginosis of Grosshans that shows clinical evidence of such mode of transmission although molecular findings are lacking as yet. In the animal kingdom, autosomal dominant sex‐limited inheritance is a well‐established phenomenon that has extensively been studied in various species such as butterflies, damselflies, fish (cichlids), and birds. Hence, at this point in time, it seems likely that other human examples of this mode of inheritance have previously been reported or will be published in the future.