A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). Mutations...

constitutional mutation in a parent. A germline mutation can be passed down through subsequent generations of organisms. The distinction between germline and somatic...

cell, or gametocyte. Unlike germline mutations, which can be passed on to the descendants of an organism, somatic mutations are not usually transmitted...

osteogenesis imperfecta because of germline mosaicism. It is possible for parents unaffected by germline mutations to produce an offspring with an autosomal...

genomes. A de novo mutation can arise in a sperm or egg cell and become a germline mutation, or after fertilization as a post-zygotic mutation that cannot be...

not in the germline are called somatic cells. According to this definition, mutations, recombinations and other genetic changes in the germline may be passed...

methylated DNA), and can arise sporadically or from germline mutations. In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found...

unibrow. Germline mutations of the Pax3 gene cause the splotch phenotype in mice. At the molecular level, this phenotype is caused by point mutations or deletions...

Adrenal Gland cancers that it is known to cause. LFS is caused by germline mutations (also called genetic variants) in the TP53 tumor suppressor gene,...

Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (2015). "Elevated germline mutation rate in teenage fathers". Proc R Soc B. 282 (1803): 1–6. doi:10.1098/rspb...

sarcoma susceptibility. Sometimes Ewing sarcoma is associated with a germline mutation. The underlying mechanism often involves a genetic change known as...

cancer. Some germline mutations in DNA repair genes cause up to 100% lifetime chance of cancer (e.g., p53 mutations). These germline mutations are indicated...

estimated that the total prevalence of germline or somatic ATM mutations in pancreatic cancer was 6.4%. ATM mutations may serve as predictive biomarkers of...

further mutations in other tumour suppressor genes need to occur. A diagnosis of Lynch syndrome is applied to people with a germline DNA mutation in one...

productive and full lives. NF-1 is a developmental syndrome caused by germline mutations in neurofibromin, a gene that is involved in the RAS pathway (RASopathy)...

single type of mutation; there are many different types of mutations. Mutation rates are given for specific classes of mutations. Point mutations are a class...

parents, they are classified as hereditary or germline mutations rather than acquired or somatic mutations. Cancer caused by a mutated gene inherited from...

germline BRCA2 mutations identified to date have been inherited, suggesting the possibility of a large "founder" effect in which a certain mutation is...

Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (2015). "Elevated germline mutation rate in teenage fathers". Proc R Soc B. 282 (1803): 1–6. doi:10.1098/rspb...

Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ (2002). "Germline mutation of the tumour suppressor PTEN in Proteus syndrome". J. Med. Genet...

still not sure what the germline mutations mean for the individuals' health, but there is increasing evidence these mutations may increase genetic predisposition...

then this single point mutation can change the entire process of cellular reproduction for this organism. Point germline mutations can lead to beneficial...

case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT". Blood. 122 (7): 1312–5. doi:10.1182/blood-2013-01-481499...

development and its germline mutation is responsible for nearly all cases of hereditary or familial medullary thyroid carcinoma. Its germline mutation may also be...

Pasi I. (26 May 2006). "Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene". Science. 312 (5777): 1228–1230. Bibcode:2006Sci...

involves a programmed process of mutation affecting the variable regions of immunoglobulin genes. Unlike germline mutation, SHM affects only an organism's...

regulates cell cycle, growth and differentiation. An inactivating germline mutation in exon 1 of the tumor suppressor gene SMARCB1 has been reported in...

Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (March 2015). "Elevated germline mutation rate in teenage fathers". Proceedings. Biological Sciences. 282 (1803):...

2004 and this clinical entity is known to be due to having biallelic germline mutations in the DOCK8 gene. HIES due to DOCK8-deficiency has a distinct clinical...

family history of breast and ovarian cancer or a documented inherited (germline) mutation in a BRCA gene are encouraged to consider risk reduction salpingo-oophorectomy...