Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

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Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. / Smith, Holly; Galmes, Romain; Gogolina, Ekaterina; Straatman-Iwanowska, Anna; Reay, Kim; Banushi, Blerida; Bruce, Christopher K; Cullinane, Andrew R; Romero, Rene; Chang, Richard; Ackermann, Oanez; Baumann, Clarisse; Cangul, Hakan; Cakmak Celik, Fatma; Aygun, Canan; Coward, Richard; Dionisi-Vici, Carlo; Sibbles, Barbara; Inward, Carol; Ae Kim, Chong; Klumperman, Judith; Knisely, A S; Gissen, Paul; Watson, Steve.

In: Human Mutation, Vol. 33, No. 12, 2012, p. 1656-64.

Research output: Contribution to journalArticlepeer-review

Harvard

Smith, H, Galmes, R, Gogolina, E, Straatman-Iwanowska, A, Reay, K, Banushi, B, Bruce, CK, Cullinane, AR, Romero, R, Chang, R, Ackermann, O, Baumann, C, Cangul, H, Cakmak Celik, F, Aygun, C, Coward, R, Dionisi-Vici, C, Sibbles, B, Inward, C, Ae Kim, C, Klumperman, J, Knisely, AS, Gissen, P & Watson, S 2012, 'Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome', Human Mutation, vol. 33, no. 12, pp. 1656-64. https://doi.org/10.1002/humu.22155

APA

Smith, H., Galmes, R., Gogolina, E., Straatman-Iwanowska, A., Reay, K., Banushi, B., Bruce, C. K., Cullinane, A. R., Romero, R., Chang, R., Ackermann, O., Baumann, C., Cangul, H., Cakmak Celik, F., Aygun, C., Coward, R., Dionisi-Vici, C., Sibbles, B., Inward, C., ... Watson, S. (2012). Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Human Mutation, 33(12), 1656-64. https://doi.org/10.1002/humu.22155

Vancouver

Author

Smith, Holly ; Galmes, Romain ; Gogolina, Ekaterina ; Straatman-Iwanowska, Anna ; Reay, Kim ; Banushi, Blerida ; Bruce, Christopher K ; Cullinane, Andrew R ; Romero, Rene ; Chang, Richard ; Ackermann, Oanez ; Baumann, Clarisse ; Cangul, Hakan ; Cakmak Celik, Fatma ; Aygun, Canan ; Coward, Richard ; Dionisi-Vici, Carlo ; Sibbles, Barbara ; Inward, Carol ; Ae Kim, Chong ; Klumperman, Judith ; Knisely, A S ; Gissen, Paul ; Watson, Steve. / Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. In: Human Mutation. 2012 ; Vol. 33, No. 12. pp. 1656-64.

Bibtex

@article{61132b5ddf4541af8bbecf03511ae602,
title = "Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome",
abstract = "Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR). Cardinal features of ARC include congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life. We report two patients presenting with a mild ARC phenotype, now 5.5 and 3.5 years old. Both patients were compound heterozygotes with the novel VPS33B donor splice-site mutation c.1225+5G>C in common. Immunoblotting and complementary DNA analysis suggest expression of a shorter VPS33B transcript, and cell-based assays show that c.1225+5G>C VPS33B mutant retains some ability to interact with VIPAR (and thus partial wild-type function). This study provides the first evidence of genotype-phenotype correlation in ARC and suggests that VPS33B c.1225+5G>C mutation predicts a mild ARC phenotype. We have established an interactive online database for ARC (https://grenada.lumc.nl/LOVD2/ARC) comprising all known variants in VPS33B and VIPAR. Also included in the database are 15 novel pathogenic variants in VPS33B and five in VIPAR. Hum Mutat 33:1656-1664, 2012. {\textcopyright} 2012 Wiley Periodicals, Inc.",
author = "Holly Smith and Romain Galmes and Ekaterina Gogolina and Anna Straatman-Iwanowska and Kim Reay and Blerida Banushi and Bruce, {Christopher K} and Cullinane, {Andrew R} and Rene Romero and Richard Chang and Oanez Ackermann and Clarisse Baumann and Hakan Cangul and {Cakmak Celik}, Fatma and Canan Aygun and Richard Coward and Carlo Dionisi-Vici and Barbara Sibbles and Carol Inward and {Ae Kim}, Chong and Judith Klumperman and Knisely, {A S} and Paul Gissen and Steve Watson",
note = "{\textcopyright} 2012 Wiley Periodicals, Inc.",
year = "2012",
doi = "10.1002/humu.22155",
language = "English",
volume = "33",
pages = "1656--64",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "John Wiley & Sons",
number = "12",

}

RIS

TY - JOUR

T1 - Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

AU - Smith, Holly

AU - Galmes, Romain

AU - Gogolina, Ekaterina

AU - Straatman-Iwanowska, Anna

AU - Reay, Kim

AU - Banushi, Blerida

AU - Bruce, Christopher K

AU - Cullinane, Andrew R

AU - Romero, Rene

AU - Chang, Richard

AU - Ackermann, Oanez

AU - Baumann, Clarisse

AU - Cangul, Hakan

AU - Cakmak Celik, Fatma

AU - Aygun, Canan

AU - Coward, Richard

AU - Dionisi-Vici, Carlo

AU - Sibbles, Barbara

AU - Inward, Carol

AU - Ae Kim, Chong

AU - Klumperman, Judith

AU - Knisely, A S

AU - Gissen, Paul

AU - Watson, Steve

N1 - © 2012 Wiley Periodicals, Inc.

PY - 2012

Y1 - 2012

N2 - Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR). Cardinal features of ARC include congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life. We report two patients presenting with a mild ARC phenotype, now 5.5 and 3.5 years old. Both patients were compound heterozygotes with the novel VPS33B donor splice-site mutation c.1225+5G>C in common. Immunoblotting and complementary DNA analysis suggest expression of a shorter VPS33B transcript, and cell-based assays show that c.1225+5G>C VPS33B mutant retains some ability to interact with VIPAR (and thus partial wild-type function). This study provides the first evidence of genotype-phenotype correlation in ARC and suggests that VPS33B c.1225+5G>C mutation predicts a mild ARC phenotype. We have established an interactive online database for ARC (https://grenada.lumc.nl/LOVD2/ARC) comprising all known variants in VPS33B and VIPAR. Also included in the database are 15 novel pathogenic variants in VPS33B and five in VIPAR. Hum Mutat 33:1656-1664, 2012. © 2012 Wiley Periodicals, Inc.

AB - Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR). Cardinal features of ARC include congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life. We report two patients presenting with a mild ARC phenotype, now 5.5 and 3.5 years old. Both patients were compound heterozygotes with the novel VPS33B donor splice-site mutation c.1225+5G>C in common. Immunoblotting and complementary DNA analysis suggest expression of a shorter VPS33B transcript, and cell-based assays show that c.1225+5G>C VPS33B mutant retains some ability to interact with VIPAR (and thus partial wild-type function). This study provides the first evidence of genotype-phenotype correlation in ARC and suggests that VPS33B c.1225+5G>C mutation predicts a mild ARC phenotype. We have established an interactive online database for ARC (https://grenada.lumc.nl/LOVD2/ARC) comprising all known variants in VPS33B and VIPAR. Also included in the database are 15 novel pathogenic variants in VPS33B and five in VIPAR. Hum Mutat 33:1656-1664, 2012. © 2012 Wiley Periodicals, Inc.

U2 - 10.1002/humu.22155

DO - 10.1002/humu.22155

M3 - Article

C2 - 22753090

VL - 33

SP - 1656

EP - 1664

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 12

ER -