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X-linked dominant inherited diseases with lethality in hemizygous males
Insights
X-linked dominant inheritance with male lethality is a rare genetic condition. This review examines its clinical and genetic aspects across several disorders, including incontinentia pigmenti and oral-facial-digital I syndrome.
Area of Science:
- Genetics
- Medical Genetics
- Rare Diseases
Background:
- X-linked dominant inheritance with lethality in hemizygous males is a rare genetic transmission pattern.
- Several well-known disorders exhibit this inheritance mode, including incontinentia pigmenti (IP), oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (Goltz syndrome).
Purpose of the Study:
- To review the clinical and genetic aspects of known disorders with X-linked dominant inheritance and male lethality.
- To identify and discuss other disorders potentially exhibiting this inheritance pattern.
Main Methods:
- Literature review of clinical and genetic data.
- Critical evaluation of existing research on relevant genetic disorders.
Main Results:
- Identified incontinentia pigmenti, OFD I syndrome, and focal dermal hypoplasia as key examples.
- Included X-linked chondrodysplasia punctata, Wildervanck syndrome, congenital cataract, muscular dystrophy, partial lipodystrophy, Aicardi syndrome, coxo-auricular syndrome, Johanson-Blizzard syndrome, and OTC deficiency for discussion.
- Highlighted that OTC deficiency exhibits neonatal lethality rather than in utero lethality.
Conclusions:
- X-linked dominant inheritance with male lethality is a distinct genetic phenomenon observed in a spectrum of rare disorders.
- Further research and critical evaluation are necessary to fully understand the genetic basis and clinical manifestations of these conditions.
Abstract:
X-linked dominant inheritance with lethality in hemizygous males is a rare mode of inheritance. The three best-known disorders which seem to be inherited in this way, are incontinentia pigmenti (IP) Bloch-Sulzberger, oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (FDH syndrome, Goltz syndrome). It is the purpose of this article to give a review of the clinical and genetic aspects of the above-mentioned diseases and to add those disorders in which this mode of inheritance is discussed. These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome. OTC deficiency is included in the study, although there is no lethality in utero, only in the neonatal period. A critical evaluation of the current literature is carried out.