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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. / Kakar, Naseebullah; Horn, Denise; Decker, Eva; Sowada, Nadine; Kubisch, Christian; Ahmad, Jamil; Borck, Guntram; Bergmann, Carsten.

In: AM J MED GENET A, Vol. 176, No. 2, 02.2018, p. 438-442.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Kakar, N, Horn, D, Decker, E, Sowada, N, Kubisch, C, Ahmad, J, Borck, G & Bergmann, C 2018, 'Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies', AM J MED GENET A, vol. 176, no. 2, pp. 438-442. https://doi.org/10.1002/ajmg.a.38562

APA

Kakar, N., Horn, D., Decker, E., Sowada, N., Kubisch, C., Ahmad, J., Borck, G., & Bergmann, C. (2018). Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. AM J MED GENET A, 176(2), 438-442. https://doi.org/10.1002/ajmg.a.38562

Vancouver

Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J et al. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. AM J MED GENET A. 2018 Feb;176(2):438-442. https://doi.org/10.1002/ajmg.a.38562

Bibtex

@article{c95032b8cd8b414eb7cadad645c13326,
title = "Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies",
abstract = "Ciliopathies are disorders of the primary cilium that can affect almost all organs and that are characterized by pleiotropy and extensive intra- and interfamilial phenotypic variability. Accordingly, mutations in the same gene can cause different ciliopathy phenotypes of varying severity. WDR60 encodes a protein thought to play a role in the primary cilium's intraflagellar transport machinery. Mutations in this gene are a rare cause of Jeune asphyxiating thoracic dystrophy (JATD) and short-rib polydactyly syndrome (SRPS). Here we report on a milder and distinct phenotype in a consanguineous Pakistani pedigree with two adolescent sisters affected by retinal degeneration and postaxial polydactyly, but lack of any further skeletal or chondrodysplasia features. By targeted high-throughput sequencing of genes known or suspected to be involved in ciliogenesis, we detected a novel homozygous N-terminal truncating WDR60 mutation (c.44delC/p.Ala15Glufs*90) that co-segregated with the disease in the family. Our finding broadens the spectrum of WDR60-related phenotypes and shows the utility of broad multigene panels during the genetic work-up of patients with ciliopathies.",
keywords = "Adaptor Proteins, Signal Transducing, Adolescent, Adult, Cilia, Ciliopathies, Ellis-Van Creveld Syndrome, Exome, Female, Homozygote, Humans, Male, Middle Aged, Mutation, Pedigree, Polydactyly, Retinal Degeneration, Ribs, Short Rib-Polydactyly Syndrome, Siblings, Young Adult, Journal Article",
author = "Naseebullah Kakar and Denise Horn and Eva Decker and Nadine Sowada and Christian Kubisch and Jamil Ahmad and Guntram Borck and Carsten Bergmann",
note = "{\textcopyright} 2017 Wiley Periodicals, Inc.",
year = "2018",
month = feb,
doi = "10.1002/ajmg.a.38562",
language = "English",
volume = "176",
pages = "438--442",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "2",

}

RIS

TY - JOUR

T1 - Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

AU - Kakar, Naseebullah

AU - Horn, Denise

AU - Decker, Eva

AU - Sowada, Nadine

AU - Kubisch, Christian

AU - Ahmad, Jamil

AU - Borck, Guntram

AU - Bergmann, Carsten

N1 - © 2017 Wiley Periodicals, Inc.

PY - 2018/2

Y1 - 2018/2

N2 - Ciliopathies are disorders of the primary cilium that can affect almost all organs and that are characterized by pleiotropy and extensive intra- and interfamilial phenotypic variability. Accordingly, mutations in the same gene can cause different ciliopathy phenotypes of varying severity. WDR60 encodes a protein thought to play a role in the primary cilium's intraflagellar transport machinery. Mutations in this gene are a rare cause of Jeune asphyxiating thoracic dystrophy (JATD) and short-rib polydactyly syndrome (SRPS). Here we report on a milder and distinct phenotype in a consanguineous Pakistani pedigree with two adolescent sisters affected by retinal degeneration and postaxial polydactyly, but lack of any further skeletal or chondrodysplasia features. By targeted high-throughput sequencing of genes known or suspected to be involved in ciliogenesis, we detected a novel homozygous N-terminal truncating WDR60 mutation (c.44delC/p.Ala15Glufs*90) that co-segregated with the disease in the family. Our finding broadens the spectrum of WDR60-related phenotypes and shows the utility of broad multigene panels during the genetic work-up of patients with ciliopathies.

AB - Ciliopathies are disorders of the primary cilium that can affect almost all organs and that are characterized by pleiotropy and extensive intra- and interfamilial phenotypic variability. Accordingly, mutations in the same gene can cause different ciliopathy phenotypes of varying severity. WDR60 encodes a protein thought to play a role in the primary cilium's intraflagellar transport machinery. Mutations in this gene are a rare cause of Jeune asphyxiating thoracic dystrophy (JATD) and short-rib polydactyly syndrome (SRPS). Here we report on a milder and distinct phenotype in a consanguineous Pakistani pedigree with two adolescent sisters affected by retinal degeneration and postaxial polydactyly, but lack of any further skeletal or chondrodysplasia features. By targeted high-throughput sequencing of genes known or suspected to be involved in ciliogenesis, we detected a novel homozygous N-terminal truncating WDR60 mutation (c.44delC/p.Ala15Glufs*90) that co-segregated with the disease in the family. Our finding broadens the spectrum of WDR60-related phenotypes and shows the utility of broad multigene panels during the genetic work-up of patients with ciliopathies.

KW - Adaptor Proteins, Signal Transducing

KW - Adolescent

KW - Adult

KW - Cilia

KW - Ciliopathies

KW - Ellis-Van Creveld Syndrome

KW - Exome

KW - Female

KW - Homozygote

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Pedigree

KW - Polydactyly

KW - Retinal Degeneration

KW - Ribs

KW - Short Rib-Polydactyly Syndrome

KW - Siblings

KW - Young Adult

KW - Journal Article

U2 - 10.1002/ajmg.a.38562

DO - 10.1002/ajmg.a.38562

M3 - SCORING: Journal article

C2 - 29271569

VL - 176

SP - 438

EP - 442

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 2

ER -