Mutation in the ELOVL4 Gene: Causes & Reasons

Possible Causes for Mutation in the ELOVL4 Gene

In most cases, Stargardt macular degeneration is caused by mutations in the ABCA4 gene. Less often, mutations in the ELOVL4 gene cause this condition. [ghr.nlm.nih.gov]

In most cases, this process is due to mutations in the ABCA4 gene. Less commonly, the disease is due to mutations in the gene ELOVL4. [ivami.com]

A very rare form of Stargardt disease may be caused by mutations in the ELOVL4 gene, which follows an autosomal dominant form of inheritance. [fightingblindness.ie]

Myopia Type 19

[…] in ABCA4, mutations in ELOVL4, BEST1, and PRPH2 genes are also implicated in its etiology.2 STARGARDT FINDINGS. (1A,1B) Fundus photography shows bilateral atrophic macular [aao.org]

[…] of retinitis pigmentosa; and they are linked with an increased risk of age-related macular degeneration.3 Although 95 percent of cases of Stargardt disease are caused by mutations [aao.org]

Retinal Dystrophy

[…] the ELOVL4 gene. [ohsu.edu]

A very rare form of Stargardt disease may be caused by mutations in the ELOVL4 gene, which follows an autosomal dominant form of inheritance. [fightingblindness.ie]

Rarely, Stargardt disease can be caused by an autosomal dominant mutation in a gene called ELOVL4. [brightfocus.org]

Retinal Macular Dystrophy Type 2

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. Invest Ophthalmol Vis Sci. 2001; 42(13):3331-6. [200.98.68.239]

[…] in the ABCA4 gene. [6] STGD4: A rare dominant defect in the PROM1 gene. [7] [5] STGD3: A rare dominant form of Stargardt disease caused by mutations in the ELOVL4 gene. [en.wikipedia.org]

Conversely, also in 2011, Bernstein et al. identified a complex heterozygous mutation in the ELOVL4 gene, wherein two deletions of a single base pair each, separated by 4 [200.98.68.239]

Benign Concentric Annular Macular Dystrophy

This interval encompasses several retinal dystrophy loci, including the ELOVL4 gene, mutated in autosomal dominant Stargardt disease, and the RIM1 gene, mutated in autosomal [ncbi.nlm.nih.gov]

Macular Dystrophy with Central Cone Involvement

[…] in the abca4 or elovl4 genes respectively. [icd10data.com]

mutations; the ELOVL genes are involved in fatty acid elongation, metabolism and membrane maintenance Kutkowska-Kazmierczak 18 ; Mueller 18 CLCC1, RP32 ; 268000, 609913, [sph.uth.edu]

Other, less frequent causes of a similar phenotype include mutations in the dominant genes STGD4 and ELOVL4 (the latter of which encodes a photoreceptor-specific component [quizlet.com]

Y-Linked Retinitis pigmentosa

We therefore considered ELOVL4 to be a good candidate for the RP25 gene and performed mutational analysis of ELOVL4 in RP families linked to this locus. [jmg.bmj.com]

In conclusion, we have conducted a mutational screen in ELOVL4, the gene responsible for STGD3 and ADMD in ARRP families linked to RP25. [jmg.bmj.com]

A single 5 bp deletion of a novel gene called ELOVL4 was identified, which segregates with all affected members of the STGD3 and ADMD families. [jmg.bmj.com]

Fleck Retina of Kandori

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. Invest Ophthalmol Vis Sci. 2001;42:3331-3336. [healio.com]

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefe's Arch Clin Exp 2005;243:90-100. 5. Zhang K, Kniazeva M, Han M, et al. [reviewofophthalmology.com]

[…] within the ELOVL4 and PROM1 genes (STGD3 and STGD4, respectively).5,7 This highlights the concept of genetic heterogeneity, defined as one phenotype that can be caused by [reviewofophthalmology.com]

Cone Rod Dystrophy Type 10

[…] in the abca4 or elovl4 genes respectively. [icd10data.com]

[…] condition) Stargardt's disease Stargardts disease (eye condition) Clinical Information An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations [icd10data.com]

Congenital Hypotrichosis with Juvenile Macular Dystrophy

Horm. (2007) [ Pubmed ] Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. [wikigenes.org]

Physical interactions of MCDR2 Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene [33]. [wikigenes.org]

Hereditary Choroidal Dystrophy

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene. Invest Ophthalmol Vis Sci 2001; 42: 3331-3336. [124.205.33.103]

PRPH2 and BEST1. 1 With the negative ABCA4 gene mutation, we made the tentative diagnosis of central areolar choroidal dystrophy (CACD) based on the clinical appearance [reviewofoptometry.com]

[…] pigmentosa. 1 There have been more than 250 different disease-causing alleles identified in ABCA4, though other locations have been implicated for Stargardt’s, including ELOVL4 [reviewofoptometry.com]

Retinal Pigmentary Dystrophy

mutations; the ELOVL genes are involved in fatty acid elongation, metabolism and membrane maintenance Kutkowska-Kazmierczak 18 ; Mueller 18 CLCC1, RP32 ; 268000, 609913, [sph.uth.edu]

[…] features, deafness and visual abnormalities including optic atrophy; similar findings were reported by independent investigators; disease features overlap with recessive ELOVL4 [sph.uth.edu]

Macular Degeneration

Abstract Stargardt macular dystrophy 3 (STGD3) is caused by dominant mutations in the ELOVL4 gene. [ncbi.nlm.nih.gov]

Sjögren-Larsson Syndrome

A form of Sjogren-Larsson syndrome with more severe neurologic signs is caused by recessive mutations in ELOVL4 (6p14,1), Mutations in the same gene have been identified in [disorders.eyes.arizona.edu]

Punctate Keratitis

Short QT Syndrome Type 1

Less often, mutations in the ELOVL4 gene cause this condition and are transmitted through autosomal-dominant inheritance. [sophiagenetics.com]

In most cases, Stargardt disease is caused by mutations in the ABCA4 gene and is usually a recessive trait. [sophiagenetics.com]

Spastic Ataxia with Congenital Miosis

SCA34 is due to a mutation in the ELOVL4 gene (6q14). SCA34 is inherited in an autosomal dominant manner and genetic counseling is possible. [findzebra.com]

Retinal Cone Dystrophy Type 1

[…] in the abca4 or elovl4 genes respectively. [icd10data.com]

Early-Onset Macular Degeneration

Stargardt-like macular dystrophy differs from Stargardt macular dystrophy in that it is caused by mutations in a gene called ELOVL4 (elongation of very-long-chain fatty acids-like [britannica.com]

It is caused by mutations in a gene called ABCA4 ( ATP -binding cassette, subfamily A, member 4). [britannica.com]

Butterfly-Shaped Pigment Dystrophy

mutations; the ELOVL genes are involved in fatty acid elongation, metabolism and membrane maintenance Kutkowska-Kazmierczak 18 ; Mueller 18 CLCC1, RP32 ; 268000, 609913, [sph.uth.edu]

[…] features, deafness and visual abnormalities including optic atrophy; similar findings were reported by independent investigators; disease features overlap with recessive ELOVL4 [sph.uth.edu]

Exfoliative Ichthyosis

[…] causing ISQMR 614457 The disease is caused by mutations affecting the gene represented in this entry. [nectarmutation.org]

[…] biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues. [ read more ] 10391218 10391219 10942423 11493318 ELOVL4 [nectarmutation.org]

North Carolina Macular Dystrophy

PRPH2 and BEST1. 1 With the negative ABCA4 gene mutation, we made the tentative diagnosis of central areolar choroidal dystrophy (CACD) based on the clinical appearance [reviewofoptometry.com]

Congenital Ichthyosis

Ichthyosis

Cystoid Macular Dystrophy

ELOVL4, the gene involved in STGD3, encodes a protein involved in fatty acid elongation and is highly expressed in rod and cone photoreceptors. [aao.org]

Mutations in ELOVL4 identified in STGD3 families generate a truncated protein product with altered elongase activity and abnormal aggregation properties. [aao.org]

Occult Macular Dystrophy

Stargardt disease is caused by mutations in ABCA4, and the inheritance pattern is autosomal recessive. [blueprintgenetics.com]

Variants in ELOVL4 are associated with autosomal dominant Stargardt disease 3. Worldwide prevalence of Stargardt disease is estimated at 1:8,000 – 1:10,000. [blueprintgenetics.com]

Genes in the Macular Dystrophy Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ABCA4 Stargardt disease, Retinitis pigmentosa, Cone [blueprintgenetics.com]

Malpuech Syndrome

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. Journal of Medical Genetics 48(9):597-601 (2011). Aldahmesh M. A., et al. [slideshare.net]

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia. American Journal of Human Genetics 89(6):745-50 (2011). Aldahmesh M. [slideshare.net]

Paroxysmal Ventricular Fibrillation Type 1

Less often, mutations in the ELOVL4 gene cause this condition and are transmitted through autosomal-dominant inheritance. [sophiagenetics.com]

In most cases, Stargardt disease is caused by mutations in the ABCA4 gene and is usually a recessive trait. [sophiagenetics.com]

Progressive Bifocal Chorioretinal Atrophy

mutations; the ELOVL genes are involved in fatty acid elongation, metabolism and membrane maintenance Kutkowska-Kazmierczak 18 ; Mueller 18 CLCC1, RP32 ; 268000, 609913, [sph.uth.edu]

[…] features, deafness and visual abnormalities including optic atrophy; similar findings were reported by independent investigators; disease features overlap with recessive ELOVL4 [sph.uth.edu]

Autosomal Recessive Myeloproliferative Disease

Less often, mutations in the ELOVL4 gene cause this condition and are transmitted through autosomal-dominant inheritance. [sophiagenetics.com]

In most cases, Stargardt disease is caused by mutations in the ABCA4 gene and is usually a recessive trait. [sophiagenetics.com]