Aicardi–Goutières syndrome (AGS) is a congenital immune-mediated neurodevelopmental disorder caused by mutations in the SAMHD1, TREX1, or Ribonuclease H2 (RNASEH2A, RNASEH2B, RNASEH2C) genes.
Mutations in the SPG21 (ACP33/maspardin) gene are associated with the mast syndrome, a type of spastic paraplegia.
Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1.
Whether associated with these diseases or sporadic, angiomyolipomas are caused by mutations in either the TSC1 or TSC2 genes, which govern cell growth and proliferation.
BRCA mutation, mutations in two genes which produce a hereditary breast-ovarian cancer syndrome
An association between mutations near or within the ncRNA component of RNase MRP, RMRP, has been identified.
The mutations cause expression of a defective α chain or complete absence thereof, an essential part of high-affinity interleukin-2 (IL-2) receptors.
In 2004, mutations on the CHD7 gene (located on Chromosome 8) were found in 10 of 17 patients in a study conducted in the Netherlands, making CHARGE an official syndrome.
Inactivating mutations in SMARCB1, formerly known as hSNF5/INI1 and a component of the human SWI/SNF remodeling complex have been found in large number of rhabdoid tumors, commonly affecting pediatric population.
Cinnamon-like mutations are known in many other bird species, including the Canary, Greenfinch, Peach-faced Lovebird and Cockatiel.
Mutations within this gene have been associated with Usher syndrome type IIIa.
Five missense mutations (A284P, R454H, V489E, C566Y, and V605F) and a splicing mutation in the POR genes have been found in patients who had hormonal evidence for combined deficiencies of two steroidogenic cytochrome P450 enzymes - P450c17 CYP17A1, which catalyzes steroid 17α-hydroxylation and 17,20 lyase reaction, and P450c21 21-Hydroxylase, which catalyzes steroid 21-hydroxylation.
Specifically the overwhelming majority of hereditary nonpolyposis colorectal cancers (HNPCC) are attributed to mutations in the genes encoding the MutS and MutL homologues MSH2 and MLH1 respectively, which allows them to be classified as tumour suppressor genes.
Flightless fruit flies (Order Diptera) encompasses a variety of different species of fly, such as Drosophila melanogaster, Bactrocera cucurbitae, Bactrocera dorsalis, and Drosophila hydei, with genetic mutations that cause them to be flightless.
The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations.
Type II appears to be due to mutations in the transcription factor TWIST2 on chromosome 2.
Goldberg–Shprintzen is a condition associated with mutations in KIAA1279 gene.
When flies with mutations in the Ether-à-go-go gene are anaesthetised with ether, their legs start to shake, like the dancing then popular at the Whisky A Go-Go nightclub in West Hollywood, California.
Hyaluronidase deficiency (also known as "Mucopolysaccharidosis type IX") is a condition caused by mutations in HYAL1, and characterized by multiple soft-tissue masses.
Mutations in the calcium channel α subunit encoding gene CACNA1H and the GABA receptor γ subunit encoding gene GABRG2 yield susceptibility for CAE.
Along with Charlotte Auerbach and A.J. Clark, Robson discovered in 1940 that mustard gas could cause mutations in fruit flies, founding the science of mutagenesis.
Dr Jozef Gécz is a senior researcher at The University of Adelaide studying the various mutations of a small part of the X chromosome that lead to mental retardation.
Homozygous mutations in the HAX1 gene are associated with Kostmann disease, i.e. the "classical," autosomal recessive form of severe congenital neutropenia (SCN3).
It is caused by mutations in TGFBI gene encoding keratoepithelin, which maps to chromosome 5q.
Other entities which are accompanied by multiple lipomas include Proteus syndrome, Cowden syndrome and related disorders due to PTEN gene mutations, benign symmetric lipomatosis (Madelung disease), familial lipodystrophy, hibernomas, and familial angiolipomatosis.
A low percentage of long-term nonprogressors have been shown to have inherited mutations of the CCR5 receptor of T cell lymphocytes.
Recurrent mutations in the genes CTNNB1, PTCH1, MLL2, SMARCA4, DDX3X, CTDNEP1, KDM6A and TBR1 were identified in individuals with medulloblastoma.
Hayden also identified the first mutations underlying Lipoprotein lipase deficiency (LPL) and developed gene therapy approaches to treat this condition.
In the 1980s, Botez pioneered studies on the effects of lesions to the cerebellum on cognition, including patients with spinocerebellar ataxia, Friedreich's ataxia, and mice with spontaneous mutations causing cerebellar damage, such as GRID2-Lc Lurcher.
Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency.
Monilethrix is caused by mutations affecting the genes KRTHB1 (KRT81), KRTHB3 (KRT83), or KRTHB6 (KRT86) which code for type II hair cortex keratins.
Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.
Mutations within RNase MRP have been shown to cause cartilage-hair hypoplasia, a disease associated with an array of symptoms such as short stature, sparse hair, skeletal abnormalities and a suppressed immune system that is frequent among Amish and Finnish.
The original mutations in the ptc gene were discovered in the fruit fly Drosophila melanogaster by 1995 Nobel Laureates Eric F. Wieschaus and Christiane Nusslein-Volhard and colleagues, and the gene was independently cloned in 1989 by Joan Hooper in the laboratory of Matthew P. Scott, and by Philip Ingham and colleagues.
They were first identified in screens for mutations causing early onset forms of familial Alzheimer's Disease by Peter St George-Hyslop at the Centre for Research in Neurodegenerative Diseases at the University of Toronto, and now also at the University of Cambridge.
In all cases, the disease is idiopathic, but is thought to involve inactivation of tumor suppressor genes (Menin gene in MEN1), or involve gain of function mutations (RET proto-oncogene MEN 2a).
In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found to resemble it.
Recent studies have shown that many cases of Sertoli Leydig cell tumor of the ovary are caused by germline mutations in the DICER1 gene.
In 2003 mutations in the SBDS gene (Shwachman–Bodian–Diamond syndrome) were found to be associated with disease.
However, PHA2 is not caused by mutations within the NCC gene, but by mutations in NCC regulators WNK1 and WNK4.
It is due to mutations in the Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) gene which is located on the long arm of chromosome 10 (10q22-q24).
Csk's interaction with a phosphotase ("Lyp", gene product of PTPN22) is possibly associated with the increased autoimmune diseases associated with PTPN22 mutations.
Mutations within this gene have been associated with Usher syndrome type IIa.
Mutations in the ACADVL gene lead to inadequate levels of an enzyme called very long-chain acyl-coenzyme A (CoA) dehydrogenase.
Several mutations were found in the protein O-Mannosyltransferase POMT1 and POMT2 genes, and one mutation was found in each of the fukutin and fukutin-related protein genes.
It can also be associated with mutations in the histone methyltransferase NSD1 gene on chromosome 5q35.
Mutations of the WT1 gene on chromosome 11 p 13 are observed in approximately 20% of Wilms' tumors.