Complete Penetrance: Causes & Reasons

Possible Causes for Complete Penetrance

Genetics The inheritance pattern of Huntington disease is autosomal dominant with complete penetrance and genetic anticipation (i.e. next generation will have more repeats [radiopaedia.org]

unstable (in some studies, most patients had symptoms and signs) ≥ 40 Abnormal with complete penetrance and anticipation (the greater the number of repeats, the earlier [merckmanuals.com]

Disease Number of CAG Repeats Interpretation ≤ 26 Normal 27–35 Normal but unstable (increased risk that children will have Huntington disease) 36–39 Abnormal with variable penetrance [merckmanuals.com]

Holt-Oram Syndrome

In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted [ncbi.nlm.nih.gov]

Holt-Oram Syndrome is an autosomal dominant condition with complete penetrance and which involves upper limb skeletal and cardiac abnormalities. [ncbi.nlm.nih.gov]

The most severe TBX5 mutation, G80R, with complete penetrance of the cardiac phenotype, strongly affects pre-mRNA splicing, whereas other mutations with incomplete penetrance [ncbi.nlm.nih.gov]

Gorlin Syndrome

This disease has an autosomal dominant inheritance pattern with complete penetrance and extremely variable expressivity. [moh-it.pure.elsevier.com]

Gorlin syndrome, also known as Basal Cell Nevus Syndrome (BCNS), is a rare autosomal dominant disorder with complete penetrance and variable expressivity. [ncbi.nlm.nih.gov]

penetrance and variable expressivity. [ncbi.nlm.nih.gov]

Oculootoradial Syndrome

Genetic inheritance Autosomal dominant with complete penetrance and widely variable expression. [accessanesthesiology.mhmedical.com]

Autosomal dominant with complete penetrance and widely variable expression. [accessanesthesiology.mhmedical.com]

It has complete penetrance and wide expressivity for a radial ray defect which may vary from an almost normal thumb to a severely malformed upper limb. [onlinelibrary.wiley.com]

Autosomal Dominant Prognathism

Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity, but about one-third of the cases do arise spontaneously. [mjdrdypu.org]

Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. [dolphintherapy.eu]

Interestingly, the Gly1121Ser variant in the ARHGAP21 gene was found to be shared by all MP individuals in the larger branch of the family with nearly complete penetrance. [pesquisa.bvsalud.org]

Habrodysplasia

It is genetically inherited as a dominant trait with complete penetrance but variable expression. [scielo.br]

The disease is determined as an autosomal dominant trait which has complete penetrance but variable expressivity. [jmg.bmj.com]

It is an inherited autosomal dominant disorder with complete penetration but variable gene expressivity. [slideshare.net]

Axenfeld-Rieger Syndrome

The syndrome is characterised by complete penetrance but variable expressivity. [ncbi.nlm.nih.gov]

Fibrodysplasia Ossificans Progressiva

Abstract Fibrodysplasia Ossificans Progressiva (FOP) is a rare hereditary connective tissue disease, genetically inherited as an autosomal dominant trait with complete penetrance [ncbi.nlm.nih.gov]

The disease is determined as an autosomal dominant trait which has complete penetrance but variable expressivity. [jmg.bmjjournals.com]

Polydactyly of a Biphalangeal Thumb

Preaxial polydactyly Preaxial polydactyly type I Complete or partial duplication of a normal biphalangeal thumb Varies from extra phalanx to complete hypoplastic thumb May [en.wikibooks.org]

penetrance 7q36; ZRS/SHH 174600 Preaxial III; PPD3 Duplication of index fingers; thumb replaced by one or two triphalangeal digits, distal epiphyses present for metacarpals [docslide.net]

penetrance Sporadic cases occur in 1/10,000 births Mirror hands and feet Polydactyly of hand or foot with appearance of mirror duplication around midline axis of arm or leg [en.wikibooks.org]

Uncombable Hair Syndrome Type 2

PMID: 8274794 Uncombable hair (pili trianguli et canaliculi): evidence for dominant inheritance with complete penetrance based on scanning electron microscopy. [pubmed.ncbi.nlm.nih.gov]

Myotonic Cataract

penetrance and it can present various ways of presentation. [pesquisa.bvsalud.org]

Background: myotonic dystrophy or Steinert disease is a multisystemic disease that displays an autosomal dominant pattern of inheritance with an almost complete penetrance [scienceopen.com]

[…] comunes ABSTRACT BACKGROUND: myotonic dystrophy or Steinert disease is a multisystemic disease that displays an autosomal dominant pattern of inheritance with an almost complete [pesquisa.bvsalud.org]

Uncombable Hair Syndrome 3

PMID: 8274794 Uncombable hair (pili trianguli et canaliculi): evidence for dominant inheritance with complete penetrance based on scanning electron microscopy. [pubmed.ncbi.nlm.nih.gov]

Hypomyelinating Leukodystrophy Type 6

It is due to an alteration in tubulin and it is determined by mutations in heterocygosis in TUBB4A gene, showing complete penetrance. [ncbi.nlm.nih.gov]

Gerstmann-Straussler-Scheinker Disease

Researchers believe that GSS is associated with almost complete penetrance, which means that virtually all individuals who have a disease-causing variation in the PRPN gene [rarediseases.org]

Amelogenesis Imperfecta Type 1A

We found a family history of DGI-II in 97% of the examined individuals, which agrees with evidence in the literature for a complete penetrance of the disorder and a low degree [ojrd.biomedcentral.com]

Adrenoleukodystrophy

Genetic counseling Transmission is X-linked with complete penetrance in male hemizygotes and 60% of female heterozygotes develop some less severe neurological symptoms later [orpha.net]

Tristichiasis

The congenital form is dominantly inherited with complete penetrance. [pneupnurse.tumblr.com]

This defect may be related to the epithelial germ cells failure to differentiate completely to meibomian glands, instead they become pilosebaceous units. [pneupnurse.tumblr.com]

Nasopalpebral Lipoma - Coloboma - Telecanthus Syndrome

Genetic counseling It is transmitted as an autosomal dominant trait with complete penetrance. [orpha.net]

The syndrome has complete penetrance and a rather narrow range of expressivity. [ncbi.nlm.nih.gov]

Genetic counseling Vertical, male-to-male transmission in 3 and 4 generations suggests autosomal dominant mode of inheritance with complete penetrance. [orpha.net]

Erythrokeratodermia Variabilis et Progressiva

There is autosomal dominant inheritance with almost complete penetrance and intrafamilial variability. [altmeyers.org]

Tietz Syndrome

The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation [ncbi.nlm.nih.gov]

Abstract Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. [ncbi.nlm.nih.gov]

Deafness is always congenital and profound and is completely penetrant, there is no patchiness to the pigmentation, and no heterochromia. [doi.org]

9q33.3-q34.11 Microdeletion Syndrome

and may constitute a new contiguous gene deletion syndrome which cannot completely be explained by deletion of STXBP1. [sparrho.com]

[…] including intellectual disability, developmental delay especially concerning speech, microcephaly, short stature, mild dysmorphisms, strabismus, and seizures of incomplete penetrance [sparrho.com]

Marinesco-Sjögren Syndrome

The syndrome is inherited as an autosomal recessive trait with complete penetrance in both sexes. [rxlist.com]

Uncombable Hair Syndrome

However, the characteristic hair morphology was observed on scanning electron microscopy in all 3 relatives, documenting dominant transmission and complete penetrance of the [scholars.northwestern.edu]

Autosomal dominant inheritance has been reported with both complete and incomplete penetrance [3] [9]. [ijcasereportsandimages.com]

penetrance based on scanning electron microscopy. [eurekamag.com]

North Carolina Macular Dystrophy

Abstract North Carolina macular dystrophy (NCMD) is an autosomal dominant macular dystrophy causing impaired central vision at an early age, is completely penetrant, and is [ncbi.nlm.nih.gov]

This is an autosomal dominant disease with complete penetrance. Lesions occur early in life and are mostly stationary. [atlasophthalmology.net]

penetrance. 2 It is characterized by early-onset, a stable course, normal full-field electroretinogram (ERG) and electrooculography (EOG), relatively normal color vision, [synapse.koreamed.org]

Autosomal Dominant Deafness 56

Huntington disease (HD), an autosomal dominant disease with little contribution from modifier genes, and complete penetrance in individuals with CAG repeat length ≥40 in the [neurology.org]

penetrance by age 30.[ PMID 9360932 ] The most common type of congenital hearing impairment in developed countries is DFNB1, also known as Connexin 26 deafness or GJB2 -related [snpedia.com]

Transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. [whonamedit.com]

Wagner Disease

penetrance, and all patients with a VCAN mutation develop Wagner syndrome in varying degrees. [eyewiki.aao.org]

[…] caused by a mutation in the VCAN gene, which is located at chromosome 5q13-15 and encodes an extracellular matrix proteoglycan named versican.[1][8] Mutations to VCAN have complete [eyewiki.aao.org]

Hereditary Proximal Myopathy with Early Respiratory Failure

The VCP gene has complete penetrance, although there is marked phenotypic variability across age groups. MYH2 penetrance is high for the recessive form of MYPOP. [invitae.com]

These values were not compatible with the assumption that MFM was a rare disease and showed complete penetrance in this family. [nature.com]

This family appears to have complete penetrance – a possible explanation for which is that the p.Arg32450Trp variant is a modifier for the disease. [ncbi.nlm.nih.gov]

Early-Onset Alzheimer Disease

Familial Alzheimer's disease is a heterogeneous disorder with autosomal dominant mode of inheritance and almost complete penetrance ( 5 ).Clinical features of young onset [annalsofneurosciences.org]

Most display complete penetrance, but a common mutation is Glu318Gly and this predisposes individuals to familial AD, with a study by Taddei (2002) [12] finding an incidence [en.wikipedia.org]

Pharmacologic interventions for mild cognitive impairment have not demonstrated benefit in reducing progression to AD. 16 The nearly complete penetrance of a PSEN1 disease-associated [bcidaho.com]

Sorsby's Fundus Dystrophy

Therefore, this disorder appears to be genetically homogeneous with complete penetrance but variable expressivity. Read full article [articles.casejournals.com]

Therefore, this disorder appears to be genetically homogeneous with complete penetrance but variable expressivity. [doi.org]

The study confirms the features described in other families: autosomal dominant inheritance with complete penetrance, loss of central vision due to subfoveal ingrowth of new [nature.com]

Intestinal Polyposis with Multiple Exostoses

There is almost complete penetrance of the intestinal phenotype but variable penetrance of the extraintestinal features. [medecinesciences.org]