Incomplete-penetrance: Causes & Reasons

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Possible Causes for incomplete penetrance

Hip Dysplasia Type Beukes

This called incomplete penetrance. [diabetes.medicclub.info]

But since the condition has incomplete penetrance and there is a range in severity of symptoms, it is difficult to predict how the mutation in the UFSP2 gene will affect a [diabetes.medicclub.info]

Generalized Epilepsy with Febrile Seizures Plus

A genomewide search, under the assumption of incomplete penetrance at 85% and a phenocopy rate of 5%, permitted identification of a new locus on chromosome 2q21-q33. [ncbi.nlm.nih.gov]

Inheritance is generally autosomal dominant with incomplete penetrance, but this may not be the only situation. [epilepsy.com]

GEFS is inherited in an autosomal dominant manner, although the condition is characterized by incomplete penetrance, with only 60% to 80% of patients known to carry a pathogenic [crd.york.ac.uk]

Hirschsprung Disease Type D-Brachydactyly Syndrome

Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.Visit the Orphanet disease page [malacards.org]

The pattern of inheritance was consistent with X-linked recessive inheritance; however, autosomal dominant inheritance with incomplete penetrance in females or multifactorial [pediatrics.aappublications.org]

Genetic counseling Genetic counseling is difficult because HSCR is a polygenic disorder with incomplete penetrance and variable expressivity. [orpha.net]

Autosomal Dominant Prognathism

Current genetic inheritance patterns proposed for the Class III malocclusion include autosomal-recessive, autosomaldominant, autosomal-dominant with incomplete penetrance, [eurekaselect.com]

penetrance and variable expressivity. [eurekaselect.com]

[…] explained by the presence of a dominant major gene with an autosomal Mendelian mode of transmission that is affected by other genes and environmental factors leading to incomplete [eurekaselect.com]

Hereditary Leiomyomatosis and Renal Cell Cancer

penetrance and clinically challenging to diagnose. [ncbi.nlm.nih.gov]

Due to the incomplete penetrance of HLRCC, the authors propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 years of age or when renal [ncbi.nlm.nih.gov]

Due to the incomplete penetrance of HLRCC, we propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 yrs of age or when renal tumor harbors [hal.archives-ouvertes.fr]

Leber's Hereditary Optic Neuropathy

It is characterized by incomplete penetrance, as only some mutation carriers become affected. [ncbi.nlm.nih.gov]

It is characterized by as yet undisclosed genetic and environmental factors affecting the incomplete penetrance. [ncbi.nlm.nih.gov]

Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional [ncbi.nlm.nih.gov]

Ichthyosis Vulgaris

penetrance in heterozygotes. [ncbi.nlm.nih.gov]

Interestingly, the proband of pedigree 1 was compound heterozygous for these mutations, but had a mild phenotype, suggesting that an incomplete penetrance factor and perhaps [ncbi.nlm.nih.gov]

In addition, these mutations are semidominant; heterozygotes show a very mild phenotype with incomplete penetrance. [ncbi.nlm.nih.gov]

Hereditary Multiple Exostoses

Whether this incomplete penetrance is associated with one of the disease genes recently identified in EXT is currently under investigation. [ncbi.nlm.nih.gov]

[…] sex‐ratio with a preponderance of males among probands in this series (103: 72, p 0.02) and in all series reported to date (198: 133, p 0.001) gives support to the variable penetrance [doi.org]

In affected females in family 2, phenotypic variability and incomplete penetrance were noted. [ncbi.nlm.nih.gov]

Familial Spontaneous Pneumothorax

The disease was inherited by autosomal-dominant type, with incomplete penetration and (or) variable expression. [ncbi.nlm.nih.gov]

Our findings indicate that familial spontaneous pneumothorax in these pedigrees is an autosomal dominant disorder with incomplete penetrance demonstrating variable expression [atsjournals.org]

Familial spontaneous pneumothorax A rare condition and inherited in two modes: autosomal dominant and X-linked recessive with incomplete penetrance. [blebinfo.co.uk]

Hereditary Pancreatitis

Hereditary pancreatitis is characterized by an autosomal-dominant mode of inheritance with incomplete penetrance, onset of symptoms in childhood or early adolescence (mean [ncbi.nlm.nih.gov]

Abstract Hereditary pancreatitis is an autosomal dominant disease with incomplete penetrance (80%), accounting for approximately 1% of all cases of pancreatitis. [ncbi.nlm.nih.gov]

It is inherited as an autosomal dominant disease, with incomplete penetrance. The genetic defect is believed to be caused by mutations in the trypsinogen gene. [ncbi.nlm.nih.gov]

Hereditary Optic Atrophy

penetrance. [ncbi.nlm.nih.gov]

There is incomplete penetrance, with only approximately 50% of the males and 10% of the females carrying a pathogenic mtDNA mutation actually developing the optic neuropathy [snpedia.com]

We cannot explain the incomplete penetrance or the male predominance of LHON, the typical onset in young adult life without warning, or the synchronicity of visual loss. [meajo.org]

Branchio-Oculo-Facial Syndrome

Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from [ncbi.nlm.nih.gov]

Abstract Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging [doi.org]

penetrance. [ipfs.io]

Early Repolarization Syndrome

penetrance. [ncbi.nlm.nih.gov]

The ERS in this pedigree was inherited in an incomplete penetrance manner, with a penetrance of only 60%. [journals.plos.org]

Autosomal dominant inheritance pattern with incomplete penetrance is suggested in ER syndrome (13, 22). [bhrs.com]

Epidermolysis Bullosa Pruriginosa

Incomplete penetrance is confirmed in her clinically unaffected mother, who carries the same dominant mutation. [ncbi.nlm.nih.gov]

Rede de Informação e Conhecimento An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa [pesquisa.bvsalud.org]

Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants. [ncbi.nlm.nih.gov]

Familial Medullary Thyroid Carcinoma

CONCLUSION: The RET E768D mutation is associated with MTC with a later age at presentation, incomplete penetrance and less aggressive course compared with other high risk [ncbi.nlm.nih.gov]

Abstract Multiple endocrine neoplasia type 2A (MEN2A) and familial medullary thyroid carcinoma (FMTC) are autosomal dominant inherited cancer syndromes with incomplete penetrance [ncbi.nlm.nih.gov]

Rare mutations of codons 790/791 associated with incomplete penetrant MEN2A/FMTC phenotype were reported in five families, contraindicating the prophylactic thyroidectomy [ncbi.nlm.nih.gov]

Popliteal Pterygium Syndrome

It has incomplete penetrance and extreme phenotypic variability that leads to difficulty in diagnosis. [ncbi.nlm.nih.gov]

The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivity. [ncbi.nlm.nih.gov]

This syndrome is inherited as an autosomal dominant trait with incomplete penetrance and varying expression and consists of cleft lip and palate, lip pits, genital anomalies [ncbi.nlm.nih.gov]

Hand-Foot-Genital Syndrome

penetrant genitourinary defects including incomplete Müllerian fusion in females and hypospadias in males. [oxfordindex.oup.com]

The limb abnormalities are reported to be fully penetrant, bilateral, and symmetrical, whereas the genitourinary abnormalities are incompletely penetrant and variably severe [link.springer.com]

Hand-foot-genital syndrome (HFGS), which is characterized by symmetric preaxial deficiency of the hands and feet, second and fifth finger clinodactyly, and frequent but incompletely [oxfordindex.oup.com]

Limb-Girdle Muscular Dystrophy Type 1H

penetrance. [telethon.it]

Two unaffected subjects (III:1 and III:11) carried the disease haplotype, suggesting an incomplete penetrance for the disease. [doi.org]

[…] progression of proximal muscle weakness in both upper and lower limbs affecting several members of a four generations Italian AD pedigree presenting variable expressivity and incomplete [telethon.it]

Infantile Cortical Hyperostosis

The familial form is inherited with an autosomal dominant pattern with incomplete penetrance. The prenatal form may be either autosomal dominant or recessive. [posna.org]

There is evidence to suggest that the familial form is inherited in an autosomal dominant fashion with incomplete penetrance and variable expression 2,3. [radiopaedia.org]

[…] the debate regarding how a state of acute bone and soft-tissue inflammation could be limited in time and space and yet be transmitted as an autosomal dominant trait with incomplete [jci.org]

Non-Syndromic Tibial Hemimelia

Inheritance was consistent with an autosomal dominant pattern with incomplete penetrance and variable expressivity. [bio2rdf.org]

A family history has been reported in a small percentage of cases with an autosomal dominant pattern of inheritance and incomplete penetrance. [dysnet.org]

penetrant E Pardono, JF Mazzeu, K Lezirovitz, MT Auricchio, P Iughetti, ... [scholar.google.com]

Viral Lower Respiratory Infection

Two nonexclusive mechanisms can explain this observation: balancing selection and incomplete penetrance. [pnas.org]

Incomplete penetrance, on the other hand, could be due to modulating effects of environmental or genetic factors, like compensatory mutations, or to functional redundancy [pnas.org]

This hypothesis is in line with several recent publications ( 34 – 37 ), which suggest that incomplete penetrance and genetic heterogeneity are likely to be the rule rather [pnas.org]

Retinitis Pigmentosa 11

penetrance in retinitis pigmentosa. [aravindachakravartilab.org]

We undertook mutation screening in the PRPF31 gene that is well reported to be linked with ADRP with incomplete penetrance. [ashg.org]

Disease penetrance correlates with population frequencies of MSR1 alleles To further investigate the role of MSR1 in the incomplete penetrance of PRPF31 -associated adRP, [nature.com]

Long QT Syndrome 5

The concealed cases fall under the heading of a more general phenomenon of incomplete penetrance of all genetic disorders of the ion channels, while standing for a difficult [romanianjournalcardiology.ro]

For example, in LQTS a genetic mutation may exhibit incomplete penetrance.51 Similarly, certain mutations may have variable expressivity, conferring different risk of disease [ahajournals.org]

Exostosis

Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance in females. [radiopaedia.org]

Females tend to have an incomplete penetrance leading to a milder presentation. [jscimedcentral.com]

The 96% penetrance figure comes from only one study.[12] Other studies have observed both incomplete and variable penetrance but without calculating the % penetrance, e.g. [en.wikipedia.org]

Mayer-Rokitansky-Küster-Hauser Syndrome

The syndrome appears to demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance and variable expressivity. [ncbi.nlm.nih.gov]

Genetic counseling MRKH syndrome was thought to be purely sporadic but familial cases seem to be inherited autosomal dominantly with incomplete penetrance and variable expressivity [orpha.net]

Congenital Vertical Talus

There was incomplete penetrance in one clinically unaffected woman with two affected children. [ncbi.nlm.nih.gov]

The reported familial cases are consistent with an autosomal dominant mode of inheritance with incomplete penetrance. [ncbi.nlm.nih.gov]

Metacarpophalangeal profiles (MCPPs) confirm incomplete penetrance in one family member. [ncbi.nlm.nih.gov]

Familial Porencephaly

Familial porencephaly is a rare condition usually transmitted as an autosomal dominant trait with incomplete penetrance. [ncbi.nlm.nih.gov]

penetrance 0003829 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intracranial hemorrhage [rarediseases.info.nih.gov]

Hemiplegia Paralysis on one side of body 0002301 Hemolytic anemia 0001878 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypopigmentation of the fundus 0007894 Incomplete [rarediseases.info.nih.gov]

Familial Pulmonary Arterial Hypertension

Familial cases of PAH are usually recognized as an autosomal dominant disease, but incomplete penetrance of the disease makes it difficult to identify pathogenic variants [bmcpulmmed.biomedcentral.com]

The underlying factors of the incomplete penetrance are yet unknown [ 20 ]. [journals.plos.org]

This is called incomplete penetrence. [pulmonaryhypertensionrn.com]

Optic Disc Drusen

They are more commonly seen among Caucasians and are believed to have an autosomal dominant pattern of inheritance with incomplete penetrance. [doctorslounge.com]

penetrance is suspected [4] Etiology Disc drusen are composed of small proteinaceous material that become calcified with advancing age. [eyewiki.aao.org]

[…] located within the optic nerve head [1] Prevalence 3.4-24/1000 [2] Males Females Caucasians Other races 70% bilateral, but asymmetric [3] Autosomal dominant inheritance with incomplete [eyewiki.aao.org]

Paroxysmal Kinesigenic Dyskinesia

Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype. [ncbi.nlm.nih.gov]

This might be attributed to the incomplete penetrance of c.649dupC. Alternatively, c.649dupC might derive from de novo. [ncbi.nlm.nih.gov]

It is inherited as an autosomal dominant trait with incomplete penetrance and phenotypic variability. [doi.org]