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CII deficiency is a genetic disorder caused by Nuclear DNA (as opposed to mitochondrial DNA) and has both autosomal recessive and dominant inheritance patterns. Most pathogenic mutations for CII deficiency occur on SDHA or SDHAF1, but other pathogenic mutations for CII are known for SDHB and SDHD. SDHA is the only SDHx gene reported to date in ...
Zellweger spectrum disorders are a group of autosomal recessive genetic disorders. They are caused due to pathogenic mutations in at least 13 different PEX genes that encode peroxins. [5] It affects the peroxisomes, which are organelles in the body that are meant to breakdown items like acids and toxic compounds. Both parents will have to have ...
There are some mild disease-causing variants that seem to exert dominant negative effects on enzymatic activity, even if present as single heterozygous. One example is a point mutation in exon 7 of CYP21A2 , (p.V281L), which is commonly found in LOCAH-associated alleles.
Glutaric acidemia type 2 has an autosomal recessive pattern of inheritance. Mutations in the ETFA, ETFB, and ETFDH genes cause glutaric acidemia type II. Mutations in these genes result in a deficiency in one of two enzymes that normally work together in the mitochondria, which are the energy-producing centers of cells.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Autosomal dominant and autosomal recessive inheritance, the two most common Mendelian inheritance patterns. An autosome is any chromosome other than a sex chromosome.. In genetics, dominance is the phenomenon of one variant of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome.
Genetic disorders are present before birth, and some genetic disorders produce birth defects, but birth defects can also be developmental rather than hereditary. The opposite of a hereditary disease is an acquired disease. Most cancers, although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases.
Gitelman syndrome has an autosomal recessive pattern of inheritance. Gitelman syndrome is caused by disease-causing variants on both alleles of the SLC12A3 gene, which encodes NCC, the sodium-chloride cotransporter. The sodium-chloride cotransporter is a protein made up of 1021 amino acids and 12 transmembrane domains. [9]