Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

Bram C.F. Veldman; Willemijn F.E. Kuper; Marc Lilien; Janneke H.M. Schuurs-Hoeijmakers; Carlo Marcelis; Milan Phan; Ymkje Hettinga; Herman E. Talsma; Peter M. van Hasselt; Hanneke A. Haijes

doi:10.1002/ajmg.a.62225

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

Bram C.F. Veldman, Willemijn F.E. Kuper, Marc Lilien, Janneke H.M. Schuurs-Hoeijmakers, Carlo Marcelis, Milan Phan, Ymkje Hettinga, Herman E. Talsma, Peter M. van Hasselt, Hanneke A. Haijes^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 is located in almost all cell types and is involved in the primary cilium assembly. Previously reported CEP83 deficient patients all presented with nephronophthisis and kidney dysfunction. Despite retinal degeneration being a common feature in ciliopathies, only one patient also had retinitis. Here, we present two unrelated patients, who both presented with retinitis pigmentosa, without nephronophthisis or any form of kidney dysfunction. Both patients harbor bi-allelic variants in CEP83. This report expands the current clinical spectrum of CEP83 deficiency. For timely diagnosis of CEP83 deficiency, we advocate that CEP83 should be included in gene panels for inherited retinal diseases.

Original language	English
Pages (from-to)	2204-2210
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	185
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.a.62225
Publication status	Published - Jul 2021

Keywords

CEP83
ciliopathy
retinal dystrophy
retinitis pigmentosa
Genetic Predisposition to Disease
Kidney/diagnostic imaging
Humans
Child, Preschool
Male
Retinitis Pigmentosa/diagnostic imaging
Microtubule-Associated Proteins/deficiency
Ciliopathies/diagnostic imaging
Female
Child
Retina/diagnostic imaging
Cilia
Kidney Diseases/diagnostic imaging

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10.1002/ajmg.a.62225Licence: CC BY-NC-ND

American J of Med Genetics Pt A - 2021 - Veldman - Beyond nephronophthisis Retinal dystrophy in the absence of kidneyFinal published version, 1.35 MBLicence: CC BY-NC-ND

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Veldman, B. C. F., Kuper, W. F. E., Lilien, M., Schuurs-Hoeijmakers, J. H. M., Marcelis, C., Phan, M., Hettinga, Y., Talsma, H. E., van Hasselt, P. M., & Haijes, H. A. (2021). Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency. American Journal of Medical Genetics, Part A, 185(7), 2204-2210. https://doi.org/10.1002/ajmg.a.62225

@article{60eedfedece347eb8a80a97f7ee9d286,

title = "Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency",

abstract = "The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 is located in almost all cell types and is involved in the primary cilium assembly. Previously reported CEP83 deficient patients all presented with nephronophthisis and kidney dysfunction. Despite retinal degeneration being a common feature in ciliopathies, only one patient also had retinitis. Here, we present two unrelated patients, who both presented with retinitis pigmentosa, without nephronophthisis or any form of kidney dysfunction. Both patients harbor bi-allelic variants in CEP83. This report expands the current clinical spectrum of CEP83 deficiency. For timely diagnosis of CEP83 deficiency, we advocate that CEP83 should be included in gene panels for inherited retinal diseases.",

keywords = "CEP83, ciliopathy, retinal dystrophy, retinitis pigmentosa, Genetic Predisposition to Disease, Kidney/diagnostic imaging, Humans, Child, Preschool, Male, Retinitis Pigmentosa/diagnostic imaging, Microtubule-Associated Proteins/deficiency, Ciliopathies/diagnostic imaging, Female, Child, Retina/diagnostic imaging, Cilia, Kidney Diseases/diagnostic imaging",

author = "Veldman, {Bram C.F.} and Kuper, {Willemijn F.E.} and Marc Lilien and Schuurs-Hoeijmakers, {Janneke H.M.} and Carlo Marcelis and Milan Phan and Ymkje Hettinga and Talsma, {Herman E.} and {van Hasselt}, {Peter M.} and Haijes, {Hanneke A.}",

note = "{\textcopyright} 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.",

year = "2021",

month = jul,

doi = "10.1002/ajmg.a.62225",

language = "English",

volume = "185",

pages = "2204--2210",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "7",

}

Veldman, BCF, Kuper, WFE, Lilien, M, Schuurs-Hoeijmakers, JHM, Marcelis, C, Phan, M, Hettinga, Y, Talsma, HE, van Hasselt, PM & Haijes, HA 2021, 'Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency', American Journal of Medical Genetics, Part A, vol. 185, no. 7, pp. 2204-2210. https://doi.org/10.1002/ajmg.a.62225

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency. / Veldman, Bram C.F.; Kuper, Willemijn F.E.; Lilien, Marc et al.
In: American Journal of Medical Genetics, Part A, Vol. 185, No. 7, 07.2021, p. 2204-2210.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Beyond nephronophthisis

T2 - Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

AU - Veldman, Bram C.F.

AU - Kuper, Willemijn F.E.

AU - Lilien, Marc

AU - Schuurs-Hoeijmakers, Janneke H.M.

AU - Marcelis, Carlo

AU - Phan, Milan

AU - Hettinga, Ymkje

AU - Talsma, Herman E.

AU - van Hasselt, Peter M.

AU - Haijes, Hanneke A.

PY - 2021/7

Y1 - 2021/7

N2 - The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 is located in almost all cell types and is involved in the primary cilium assembly. Previously reported CEP83 deficient patients all presented with nephronophthisis and kidney dysfunction. Despite retinal degeneration being a common feature in ciliopathies, only one patient also had retinitis. Here, we present two unrelated patients, who both presented with retinitis pigmentosa, without nephronophthisis or any form of kidney dysfunction. Both patients harbor bi-allelic variants in CEP83. This report expands the current clinical spectrum of CEP83 deficiency. For timely diagnosis of CEP83 deficiency, we advocate that CEP83 should be included in gene panels for inherited retinal diseases.

AB - The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 is located in almost all cell types and is involved in the primary cilium assembly. Previously reported CEP83 deficient patients all presented with nephronophthisis and kidney dysfunction. Despite retinal degeneration being a common feature in ciliopathies, only one patient also had retinitis. Here, we present two unrelated patients, who both presented with retinitis pigmentosa, without nephronophthisis or any form of kidney dysfunction. Both patients harbor bi-allelic variants in CEP83. This report expands the current clinical spectrum of CEP83 deficiency. For timely diagnosis of CEP83 deficiency, we advocate that CEP83 should be included in gene panels for inherited retinal diseases.

KW - CEP83

KW - ciliopathy

KW - retinal dystrophy

KW - retinitis pigmentosa

KW - Genetic Predisposition to Disease

KW - Kidney/diagnostic imaging

KW - Humans

KW - Child, Preschool

KW - Male

KW - Retinitis Pigmentosa/diagnostic imaging

KW - Microtubule-Associated Proteins/deficiency

KW - Ciliopathies/diagnostic imaging

KW - Female

KW - Child

KW - Retina/diagnostic imaging

KW - Cilia

KW - Kidney Diseases/diagnostic imaging

UR - http://www.scopus.com/inward/record.url?scp=85104935213&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.62225

DO - 10.1002/ajmg.a.62225

M3 - Article

C2 - 33938610

AN - SCOPUS:85104935213

SN - 1552-4825

VL - 185

SP - 2204

EP - 2210

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 7

ER -

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

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