Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report

<strong>Background</strong> We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX. <br> <strong>Case presentation</strong> A 43-year-old fe...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Al-Khuzaei, S, Hudspith, KAZ, Broadgate, S, Shanks, ME, Clouston, P, Németh, AH, Halford, S, Downes, SM
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	BioMed Central 2021

Antzeko izenburuak

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report
nork: Saoud Al-Khuzaei, et al.
Argitaratua: (2021-04-01)

Novel pathogenic sequence variants in NR2E3 and clinical findings in three patients
nork: Al-Khuzaei, S, et al.
Argitaratua: (2020)

Association of clinical and genetic heterogeneity with BEST1 sequence variations
nork: Shah, M, et al.
Argitaratua: (2020)

Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.
nork: Halford, S, et al.
Argitaratua: (2012)

Genetic and clinical findings in an ethnically diverse cohort with Retinitis Pigmentosa associated with pathogenic variants in CERKL
nork: Downes, SM, et al.
Argitaratua: (2020)

Unravelling the genetics of inherited retinal dystrophies: Past, present and future.
nork: Broadgate, S, et al.
Argitaratua: (2017)

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"
nork: Cundy, O, et al.
Argitaratua: (2020)

Genetics of the Retinal Dystrophies
nork: Merepa, S, et al.
Argitaratua: (2018)

An overview of the genetics of ABCA4 retinopathies, an evolving story
nork: Al-Khuzaei, S, et al.
Argitaratua: (2021)

The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions
nork: Al-Khuzaei, S, et al.
Argitaratua: (2021)

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)
nork: Shanks, M, et al.
Argitaratua: (2011)

Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy
nork: Singh, M, et al.
Argitaratua: (2016)

Characterization of CDH3-related congenital hypotrichosis with juvenile macular dystrophy
nork: Hull, S, et al.
Argitaratua: (2016)

A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree
nork: Qin-Kang Lu, et al.
Argitaratua: (2015-12-01)

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
nork: Shanks, M, et al.
Argitaratua: (2013)

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
nork: Shanks, M, et al.
Argitaratua: (2013)

Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy
nork: Broadgate, S, et al.
Argitaratua: (2018)

Phenotypic and genetic characteristics in a cohort of patients with Usher genes
nork: Feenstra, HM, et al.
Argitaratua: (2022)

Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
nork: Kwasniewska, A, et al.
Argitaratua: (2011)

Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family
nork: Yu-He Qi, et al.
Argitaratua: (2017-08-01)

A macular dystrophy?
nork: Muskan Garg, et al.
Argitaratua: (2024-06-01)

Occult Macular Dystrophy
nork: Işıl Sayman Muslubaş, et al.
Argitaratua: (2016-04-01)

Next Generation Sequencing (NGS) in healthcare delivery: lessons from the functional analysis of rhodopsin
nork: Nemeth, A, et al.
Argitaratua: (2012)

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.
nork: Davies, W, et al.
Argitaratua: (2012)

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.
nork: Downes, S, et al.
Argitaratua: (2012)

Corneal macular dystrophy. Case Presentation.
nork: Leopoldo Garduño-Vieyra, et al.
Argitaratua: (2022-12-01)

Genetic testing for Stargardt macular dystrophy
nork: Abeshi Andi, et al.
Argitaratua: (2017-10-01)

Macular cysts in bietti crystalline dystrophy
nork: Syed Mohideen Abdul Khadar, et al.
Argitaratua: (2022-01-01)

Clinical characterization of retinitis pigmentosa associated with variants in SNRNP200
nork: Yusuf, IH, et al.
Argitaratua: (2019)

Next-generation sequencing in childhood disorders
nork: Schnekenberg, R, et al.
Argitaratua: (2014)

A DNA base-specific sequence interposed between CRX and NRL contributes to RHODOPSIN expression
nork: Rosa Maritato, et al.
Argitaratua: (2024-11-01)

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
nork: Halford, S, et al.
Argitaratua: (2014)

The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy
nork: Zhe Zhu, et al.
Argitaratua: (2022-11-01)

Analysis of macular cone photoreceptors in a case of occult macular dystrophy
nork: Tojo N, et al.
Argitaratua: (2013-05-01)

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy
nork: Halford, S, et al.
Argitaratua: (2014)

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
nork: Nicole Weisschuh, et al.
Argitaratua: (2016-01-01)

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy
nork: Thomas M.W. Buckley, et al.
Argitaratua: (2022-12-01)

Comparison of optical coherence tomography and fluorescein angiography in assessing macular edema in retinal dystrophies: preliminary results.
nork: Stanga, P, et al.
Argitaratua: (2001)

Mechanistically distinct mouse models for CRX-associated retinopathy.
nork: Nicholas M Tran, et al.
Argitaratua: (2014-02-01)

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
nork: El-Ashry, M, et al.
Argitaratua: (2002)