Reduced Penetrance: Causes & Reasons

Possible Causes for Reduced Penetrance

These malformations may be sporadic or inherited in an incomplete autosomal dominant fashion, with reduced penetrance and variable expression. [visualdx.com]

When inherited, they show an incomplete autosomal dominant pattern with reduced penetrance and variable expression. [onlinelibrary.wiley.com]

Primary Torsion Dystonia

Molecular analysis of relatives in 2 families revealed that the lack of family history was due to reduced penetrance. [ncbi.nlm.nih.gov]

penetrance. [ncbi.nlm.nih.gov]

Several different modes of inheritance have been described, including autosomal dominant transmission with reduced penetrance (12 loci), recessive X-linked (one locus), and [ncbi.nlm.nih.gov]

Adult-Onset Cervical Dystonia Type DYT23

It is inherited in an autosomal dominant manner with reduced penetrance. [docslide.net]

Inheritance follows an autosomal-dominant manner with reduced penetrance. [neupsykey.com]

DYT6-dystonia is also a pure AD PTD, with reduced penetrance (60%) and variable expressivity ( Saunders-Pullman et al., 2007 ). [frontiersin.org]

Long QT Syndrome 3

Some people who have an altered gene never develop signs and symptoms of the condition, a situation known as reduced penetrance. [ghr.nlm.nih.gov]

Tumor Necrosis Factor Receptor 1-associated Periodic Syndrome

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance. [nature.com]

(This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with the mutated gene do not. [ghr.nlm.nih.gov]

Polydactyly of a Biphalangeal Thumb

Either a single autosomal dominant gene with reduced penetrance or a multi-genic threshold model might be involved. [rrnursingschool.biz]

penetrance in some cases Some cases may be due to exposure to toxins or womb anomalies Found as part of over 100 genetic syndromes Edit Worry about what others will think [psychology.wikia.com]

penetrance Preaxial polydactyly Preaxial polydactyly type I Complete or partial duplication of a normal biphalangeal thumb Varies from extra phalanx to complete hypoplastic [psychology.wikia.com]

Camurati-Engelmann Syndrome

Reduced penetrance complicates genetic counseling. Management and treatment No disease-modifying treatment is available. [orpha.net]

Genetic counseling CED is inherited as an autosomal dominant trait with reduced penetrance. The number of cases caused by de novo mutations is not known. [orpha.net]

Non-Syndromic Tibial Hemimelia

penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. [semanticscholar.org]

penetrance and variable expression. [connection.ebscohost.com]

[…] malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced [semanticscholar.org]

Spinocerebellar Ataxia Type 10

To describe reduced penetrance associated with early onset in a Brazilian family with spinocerebellar ataxia type 10. [ncbi.nlm.nih.gov]

The age at onset for this patient, at 83 years of age, is the latest documented for SCA10 patients and is suggestive of a reduced penetrance allele in his family. [ncbi.nlm.nih.gov]

reduced penetrant expansions [5] – [7]. [journals.plos.org]

Ectrodactyly

This report reconfirms that EEC syndrome is a pleiotropic trait with reduced penetrance. [ncbi.nlm.nih.gov]

There are several varieties and the pattern of inheritance may be autosomal dominant with reduced penetrance [MIM*183600 and MIM*183802], autosomal recessive [MIM*225290 and [medical-dictionary.thefreedictionary.com]

The most common mode of inheritance is autosomal dominant with reduced penetrance ABC news link Other similar posts [anatomybox.com]

Lymphatic Malformation

Hereditary lymphedema generally shows an autosomal dominant pattern of inheritance with reduced penetrance, variable expression and variable age at onset. [ncbi.nlm.nih.gov]

Familial Pulmonary Arterial Hypertension

However, due to reduced penetrance, only 20% of individuals with BMPR2 gene mutations develop symptoms of pulmonary arterial hypertension. [arup.utah.edu]

Penetrance PAH exhibits reduced penetrance, meaning that not everyone who inherits a predisposition to develop it will go on to manifest symptoms. [invitae.com]

However, many people with an altered gene never develop pulmonary arterial hypertension ; this phenomenon is called reduced penetrance. [ghr.nlm.nih.gov]

Autosomal Recessive Spinocerebellar Ataxia Type 17

Reduced penetrance in SCA17? [ncbi.nlm.nih.gov]

[…] of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, Neurosci Lett, 358, 107-110, 20040401 Possible reduced penetrance of expansion of [seeds.office.hiroshima-u.ac.jp]

This is called reduced penetrance. It is not known why some people develop ataxia and others do not. SCA8 is caused by a repeat expansion. [ataxiacenter.umn.edu]

Duodenal Atresia - Tetralogy of Fallot

penetrance) or autosomal recessive manner Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is [dovemed.com]

[…] gene mutations causing Duodenal Atresia Tetralogy of Fallot have not been identified yet The disorder is transmitted in an autosomal dominant (with variable expression and reduced [dovemed.com]

Hereditary Sensory and Autonomic Neuropathy Type 6

However, sibs of a proband with clinically unaffected parents are still presumed to be at increased risk for SPTLC1-related HSN because of the possibility of reduced penetrance [ncbi.nlm.nih.gov]

penetrance has been observed. [ncbi.nlm.nih.gov]

penetrance, early death of the parent before the onset of symptoms, or late onset of the disease in the affected parent. [ncbi.nlm.nih.gov]

Brachydactyly Type A3

Inheritance This type is autosomal dominant with reduced penetrance. [ojrd.biomedcentral.com]

penetrance. [ojrd.biomedcentral.com]

Various other studies supported an autosomal dominant pattern with reduced penetrance. Molecular genetics no gene or locus for BDD has yet been identified. 5. [ojrd.biomedcentral.com]

15q13.3 Microdeletion Syndrome

penetrance, or can occur as a new (de novo) deletion.[2815] Treatment typically focuses on individual signs and symptoms when possible.[11276] For more information, visit [rarediseases.org]

penetrance, or can occur as a new (de novo) deletion. [rarediseases.info.nih.gov]

In autosomal dominant inheritance with reduced or incomplete penetrance, an individual may not develop symptoms even when he/she is carrying a gene mutation or deletion in [dovemed.com]

Clavicular Hypoplasia with Zygomatic Arch Hypoplasia and Micrognathia

In the second generation this deformity was not observed because this gene was expressed with reduced penetrance. [pesquisa.bvsalud.org]

19, members in five generations was showed and only nine of them were studied, in this family the condition with reduced penetrance was showed. [pesquisa.bvsalud.org]

penetrance was showed. [pesquisa.bvsalud.org]

Myoclonus-Dystonia Syndrome 11

Assuming reduced penetrance, inheritance was compatible with linkage to this locus in these families. [jnnp.bmj.com]

It may manifest as an autosomal dominant condition or sometimes, as a sporadic entity, though there are doubts whether these represent cases with reduced penetrance. [annalsofian.org]

Although reduced penetrance in DYT11-MD has been attributed to the maternal imprinting epsilon-sarcoglycan mutations, NM-DYT11 carriers showed significant metabolic abnormalities [foundationdystoniaresearch.org]

Autosomal Dominant Spastic Paraplegia Type 80

These results confirm the existence of mutation in the SPG4 gene with a reduced penetrance, indicating that other genetic or environmental factors are required to trigger [link.springer.com]

Split Hand-Split Foot Malformation Type 1

Journal Journal of Medical Genetics Abstract Split-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression. [ore.exeter.ac.uk]

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. [e-sciencecentral.org]

SFHM1 is expressed as an autosomal dominant trait with reduced penetrance and variable expression and is accompanied by deafness in 35% of the patients as observed in the [molecularcytogenetics.biomedcentral.com]

Autosomal Dominant Mental Retardation Type 1

This suggests the symptoms of 2q23.1 microdeletion syndrome may reduced penetrance. [rarediseases.info.nih.gov]

Familial Temporal Lobe Epilepsy Type 1

penetrance and suggesting that ADLTE is genetically heterogeneous.3-5 The LGI1 gene is mainly expressed in brain tissues and shows no homology with known ion channel genes [jamanetwork.com]

Two other unaffected subjects did carry the mutation, consistent with reduced penetrance: II:1, aged 76 years, and IV:5, aged 17 years at the time of study. [ncbi.nlm.nih.gov]

[…] leucine-rich, glioma-inactivated 1 (LGI1) gene (GenBank 9211), also named Epitempin, are found in about 50% of the families, compatible with autosomal dominant inheritance with reduced [jamanetwork.com]

Brachydactyly Type C

Inheritance This type is autosomal dominant with reduced penetrance. [ojrd.biomedcentral.com]

penetrance. [ojrd.biomedcentral.com]

Various other studies supported an autosomal dominant pattern with reduced penetrance. Molecular genetics no gene or locus for BDD has yet been identified. 5. [ojrd.biomedcentral.com]

Brachydactyly Type E2

Inheritance This type is autosomal dominant with reduced penetrance. [ojrd.biomedcentral.com]

penetrance. [ojrd.biomedcentral.com]

Various other studies supported an autosomal dominant pattern with reduced penetrance. Molecular genetics no gene or locus for BDD has yet been identified. 5. [ojrd.biomedcentral.com]

Brachydactyly Type A1

Inheritance This type is autosomal dominant with reduced penetrance. [ojrd.biomedcentral.com]

penetrance. [ojrd.biomedcentral.com]

Various other studies supported an autosomal dominant pattern with reduced penetrance. Molecular genetics no gene or locus for BDD has yet been identified. 5. [ojrd.biomedcentral.com]

COL4A1-Related Disorders

Mosaicism can contribute to both reduced penetrance or variable expressivity but other factors do as well. [rarediseases.org]

This observation suggests a reduced penetrance of COL4A1/COL4A2 mutations that may partly contribute to the generational gradient of disease severity. [ncbi.nlm.nih.gov]

When an individual tests positive for a mutation but does not manifest the effects, it is referred to as having incomplete or reduced penetrance. [rarediseases.org]

Neonatal 6q24-Related Transient Diabetes Mellitus

Penetrance Reduced penetrance of the 6q24-TNDM has rarely been described, but has been noted in sibs of affected individuals. [ncbi.nlm.nih.gov]

Because of reduced penetrance, sibs who inherit the paternal 6q24 duplication may not develop TNDM, but they are at increased risk of developing diabetes mellitus later in [ncbi.nlm.nih.gov]

Iminoglycinuria

Reduced penetrance is a phenomenon where a fully inherited genetic trait, such as a disease or disorder, fails to exhibit the expected phenotype. [findzebra.com]

It is also found in the kidney, optical choroid, and parts of the central nervous system such the brain and microglial cells.[26] Reduced penetrance is a phenomenon where [en.wikipedia.org]

Here, system IMINO is thought to play a role in reduced penetrance of iminoglycinuria by compensating for imino acid malabsorption related specifically to mutations of PAT2 [findzebra.com]

Brachydactyly Type B

Inheritance This type is autosomal dominant with reduced penetrance. [ojrd.biomedcentral.com]

penetrance. [ojrd.biomedcentral.com]

Various other studies supported an autosomal dominant pattern with reduced penetrance. Molecular genetics no gene or locus for BDD has yet been identified. 5. [ojrd.biomedcentral.com]