CADASIL ("Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy") is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19.
Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease).
At least one type of autosomal dominant cone-rod dystrophy is caused by mutations in the guanylate cyclase 2D gene (GUCY2D) on chromosome 17.
When caused by a mutation in the DNM2 gene, the disorder is autosomal dominant, meaning it can be passed on by one mutated gene.
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When the mutation takes place in the BIN1 gene, the disease is instead autosomal recessive, and both genes must be mutated for the disease to be inherited.
D-Bifunctional protein deficiency (officially called 17-β-hydroxysteroid dehydrogenase IV deficiency) is an autosomal recessive peroxisomal fatty acid oxidation disorder.
In some families autosomal dominant inheritance and point mutations in the TGFBI gene encoding keratoepithelin have been identified,
They sequenced four individuals with Freeman-Sheldon syndrome (FSS) (OMIM 193700), a rare autosomal dominant disorder known to be caused by a mutation in the gene MYH3.
The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations.
In partnership with Abraham Kornzweig, Bassen identified Bassen-Kornzweig disease, a rare autosomal recessive disorder in which the body fails to produce chylomicrons, a low density lipoprotein (LDL) and very low density lipoprotein (VLDL).
However, also a PNH case with a germline mutation in the autosomal gene PIGT and a second acquired somatic hit has been reported.
Cystic fibrosis (CF) is an autosomal recessive hereditary disease of the lungs, sweat glands and digestive system.
The Iraqw's autosomal DNA has been examined in a comprehensive study by Tishkoff et al. (2009) on the genetic affiliations of various populations in Africa.
It is suspected that Joseph suffered from Werner syndrome, a rare autosomal recessive disorder that is characterized by the appearance of premature aging.
The Konso's autosomal DNA has been examined in a comprehensive study by Tishkoff et al. (2009) on the genetic affiliations of various populations in Africa.
Homozygous mutations in the HAX1 gene are associated with Kostmann disease, i.e. the "classical," autosomal recessive form of severe congenital neutropenia (SCN3).
In 2007, Wilford Taylor, the Chief of the MOWA Choctaw Indians, agreed to participate in a DNA autosomal test that would map his genes, as part of the Genographic Project administered by the National Geographic Society.
Netherton syndrome is an autosomal recessive disorder associated with mutations in the SPINK5 gene, which encodes the serine protease inhibitor lympho-epithelial Kazal-type-related inhibitor (LEKTI).
Individuals with adult Refsum disease, an autosomal recessive neurological disorder caused by mutations in the PHYH gene, have impaired α-oxidation activity and accumulate large stores of phytanic acid in their blood and tissues.
Refsum disease, an autosomal recessive disorder that results from the accumulation of large stores of phytanic acid in tissues, frequently manifests peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, anosmia, and hearing loss.
A Pitt–Hopkins like phenotype has been assigned to autosomal recessive mutations of the contactin associated protein like 2 (CNTNAP2) gene on the long arm of chromosome 7 (7q33-q36) and the neurexin 1 alpha (NRXN1) gene on the short arm of chromosome 2 (2p16.3).
The Netherton syndrome Mendelian Inheritance in Man is inherited as an autosomal recessive disorder due to mutations of both copies of the SPINK5 gene (localized to band 5q31-32), which encodes the serine protease inhibitor LEKTI (lymphoepithelial Kazal-type-related inhibitor).
CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome) is a hereditary stroke condition due to a Notch 3 gene mutation on Chromosome 19.
This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature.