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Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. / Huijmans, Jan G. M.; Schot, Rachel; de Klerk, Johannis B. C. et al.

In: American journal of medical genetics. Part A, Vol. 173A, No. 6, 2017, p. 1601-1606.

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

Harvard

Huijmans, JGM, Schot, R, de Klerk, JBC, Williams, M, de Coo, RFM, Duran, M, Verheijen, FW, van Slegtenhorst, M & Mancini, GMS 2017, 'Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene', American journal of medical genetics. Part A, vol. 173A, no. 6, pp. 1601-1606. https://doi.org/10.1002/ajmg.a.38240

APA

Huijmans, J. G. M., Schot, R., de Klerk, J. B. C., Williams, M., de Coo, R. F. M., Duran, M., Verheijen, F. W., van Slegtenhorst, M., & Mancini, G. M. S. (2017). Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. American journal of medical genetics. Part A, 173A(6), 1601-1606. https://doi.org/10.1002/ajmg.a.38240

Vancouver

Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M et al. Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. American journal of medical genetics. Part A. 2017;173A(6):1601-1606. doi: 10.1002/ajmg.a.38240

Author

Huijmans, Jan G. M. ; Schot, Rachel ; de Klerk, Johannis B. C. et al. / Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. In: American journal of medical genetics. Part A. 2017 ; Vol. 173A, No. 6. pp. 1601-1606.

BibTeX

@article{2169ed111e0047a2813712796c09064d,
title = "Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene",
abstract = "We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, {"}marfanoid{"} dysmorphic features, and moderate abnormalities of sulfite metabolism compatible with molybdenum cofactor deficiency, but normal sulfite oxidase activity in cultured skin fibroblasts. Genomic exome analysis revealed a homozygous MOCS3 missense mutation, leading to a p.Ala257Thr substitution in the highly conserved ubiquitin-like-domain of the protein. MOCS3 is the third protein, besides MOCS1 and MOCS2, involved in the biosynthesis of the molybdenum cofactor and has a dual ubiquitin-like function in tRNA thiolation. It is plausible that the phenotype results from deficiency of this dual function, not only from defective synthesis of molybdenum cofactor, which would explain similarities and differences from the MOCS1 and MOCS2-related disorders. This observation should encourage testing of additional ID patients with mild abnormalities of sulfite metabolism for MOCS3 mutations",
author = "Huijmans, {Jan G. M.} and Rachel Schot and {de Klerk}, {Johannis B. C.} and Monique Williams and {de Coo}, {Ren{\'e} F. M.} and Marinus Duran and Verheijen, {Frans W.} and {van Slegtenhorst}, Marjon and Mancini, {Grazia M. S.}",
year = "2017",
doi = "10.1002/ajmg.a.38240",
language = "English",
volume = "173A",
pages = "1601--1606",
journal = "American journal of medical genetics. Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "6",

}

RIS

TY - JOUR

T1 - Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

AU - Huijmans, Jan G. M.

AU - Schot, Rachel

AU - de Klerk, Johannis B. C.

AU - Williams, Monique

AU - de Coo, René F. M.

AU - Duran, Marinus

AU - Verheijen, Frans W.

AU - van Slegtenhorst, Marjon

AU - Mancini, Grazia M. S.

PY - 2017

Y1 - 2017

N2 - We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible with molybdenum cofactor deficiency, but normal sulfite oxidase activity in cultured skin fibroblasts. Genomic exome analysis revealed a homozygous MOCS3 missense mutation, leading to a p.Ala257Thr substitution in the highly conserved ubiquitin-like-domain of the protein. MOCS3 is the third protein, besides MOCS1 and MOCS2, involved in the biosynthesis of the molybdenum cofactor and has a dual ubiquitin-like function in tRNA thiolation. It is plausible that the phenotype results from deficiency of this dual function, not only from defective synthesis of molybdenum cofactor, which would explain similarities and differences from the MOCS1 and MOCS2-related disorders. This observation should encourage testing of additional ID patients with mild abnormalities of sulfite metabolism for MOCS3 mutations

AB - We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible with molybdenum cofactor deficiency, but normal sulfite oxidase activity in cultured skin fibroblasts. Genomic exome analysis revealed a homozygous MOCS3 missense mutation, leading to a p.Ala257Thr substitution in the highly conserved ubiquitin-like-domain of the protein. MOCS3 is the third protein, besides MOCS1 and MOCS2, involved in the biosynthesis of the molybdenum cofactor and has a dual ubiquitin-like function in tRNA thiolation. It is plausible that the phenotype results from deficiency of this dual function, not only from defective synthesis of molybdenum cofactor, which would explain similarities and differences from the MOCS1 and MOCS2-related disorders. This observation should encourage testing of additional ID patients with mild abnormalities of sulfite metabolism for MOCS3 mutations

U2 - 10.1002/ajmg.a.38240

DO - 10.1002/ajmg.a.38240

M3 - Article

C2 - 28544736

VL - 173A

SP - 1601

EP - 1606

JO - American journal of medical genetics. Part A

JF - American journal of medical genetics. Part A

SN - 1552-4825

IS - 6

ER -

ID: 3984661