Screening for CDG type Ia in Joubert syndrome

Eva Morava-Kozicz, Beatrix Cser, Judit Kárteszl, Karin Huljben, Laszlo Szönyi, Gyorgy Kosztolányi, Ron Wevers

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Background: The features of Joubert syndrome include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements. Common symptoms in congenital disorders of glycosylation (CDG) type Ia are muscle hypotonia, cerebellar hypoplasia, ataxia, mental retardation, ophthalmologic involvement, failure to thrive, abnormal fat distribution, and hepatopathy. It has been postulated that some Joubert syndrome patients might have an underlying disorder of protein glycosylation. Material/Methods: Screening for disorders of glycosylation was performed in five children diagnosed with Joubert syndrome. Data were retrospectively collected from clinical charts, the patients were reexamined by clinical geneticists, and available neuro-imaging data were also reanalyzed. Diagnoses were established based on results of serum transferrin isoelectric focusing, phosphomannomutase enzyme activity measurements, and DNA mutation analysis. Results: We confirmed the diagnoses of CDG type Ia in two of the five children originally diagnosed with Joubert syndrome. The symptoms of the two syndromes were clearly distinguishable. Conclusions: Syndromic patients with congenital vermis malformations should be screened for congenital disorders of glycosylation.

Original languageEnglish (US)
JournalMedical Science Monitor
Volume10
Issue number8
StatePublished - Aug 1 2004
Externally publishedYes

Fingerprint

Muscle Hypotonia
Glycosylation
Congenital Disorders of Glycosylation
Hypoventilation
Failure to Thrive
Cerebellar Ataxia
Dyskinesias
Isoelectric Focusing
Ataxia
Transferrin
Eye Movements
Intellectual Disability
Fats
Mutation
Congenital disorder of glycosylation type 1A
Joubert syndrome 1
Type In Congenital Disorder of Glycosylation
DNA
Enzymes
Serum

Keywords

  • CDG
  • Glycosylation
  • Joubert syndrome
  • Vermis hypoplasia

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Morava-Kozicz, E., Cser, B., Kárteszl, J., Huljben, K., Szönyi, L., Kosztolányi, G., & Wevers, R. (2004). Screening for CDG type Ia in Joubert syndrome. Medical Science Monitor, 10(8).

Screening for CDG type Ia in Joubert syndrome. / Morava-Kozicz, Eva; Cser, Beatrix; Kárteszl, Judit; Huljben, Karin; Szönyi, Laszlo; Kosztolányi, Gyorgy; Wevers, Ron.

In: Medical Science Monitor, Vol. 10, No. 8, 01.08.2004.

Research output: Contribution to journalArticle

Morava-Kozicz, E, Cser, B, Kárteszl, J, Huljben, K, Szönyi, L, Kosztolányi, G & Wevers, R 2004, 'Screening for CDG type Ia in Joubert syndrome', Medical Science Monitor, vol. 10, no. 8.
Morava-Kozicz E, Cser B, Kárteszl J, Huljben K, Szönyi L, Kosztolányi G et al. Screening for CDG type Ia in Joubert syndrome. Medical Science Monitor. 2004 Aug 1;10(8).
Morava-Kozicz, Eva ; Cser, Beatrix ; Kárteszl, Judit ; Huljben, Karin ; Szönyi, Laszlo ; Kosztolányi, Gyorgy ; Wevers, Ron. / Screening for CDG type Ia in Joubert syndrome. In: Medical Science Monitor. 2004 ; Vol. 10, No. 8.
@article{2822e2e0b13045f9aac404c947ed2bdc,
title = "Screening for CDG type Ia in Joubert syndrome",
abstract = "Background: The features of Joubert syndrome include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements. Common symptoms in congenital disorders of glycosylation (CDG) type Ia are muscle hypotonia, cerebellar hypoplasia, ataxia, mental retardation, ophthalmologic involvement, failure to thrive, abnormal fat distribution, and hepatopathy. It has been postulated that some Joubert syndrome patients might have an underlying disorder of protein glycosylation. Material/Methods: Screening for disorders of glycosylation was performed in five children diagnosed with Joubert syndrome. Data were retrospectively collected from clinical charts, the patients were reexamined by clinical geneticists, and available neuro-imaging data were also reanalyzed. Diagnoses were established based on results of serum transferrin isoelectric focusing, phosphomannomutase enzyme activity measurements, and DNA mutation analysis. Results: We confirmed the diagnoses of CDG type Ia in two of the five children originally diagnosed with Joubert syndrome. The symptoms of the two syndromes were clearly distinguishable. Conclusions: Syndromic patients with congenital vermis malformations should be screened for congenital disorders of glycosylation.",
keywords = "CDG, Glycosylation, Joubert syndrome, Vermis hypoplasia",
author = "Eva Morava-Kozicz and Beatrix Cser and Judit K{\'a}rteszl and Karin Huljben and Laszlo Sz{\"o}nyi and Gyorgy Kosztol{\'a}nyi and Ron Wevers",
year = "2004",
month = "8",
day = "1",
language = "English (US)",
volume = "10",
journal = "Medical Science Monitor",
issn = "1234-1010",
publisher = "International Scientific Literature Inc.",
number = "8",

}

TY - JOUR

T1 - Screening for CDG type Ia in Joubert syndrome

AU - Morava-Kozicz, Eva

AU - Cser, Beatrix

AU - Kárteszl, Judit

AU - Huljben, Karin

AU - Szönyi, Laszlo

AU - Kosztolányi, Gyorgy

AU - Wevers, Ron

PY - 2004/8/1

Y1 - 2004/8/1

N2 - Background: The features of Joubert syndrome include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements. Common symptoms in congenital disorders of glycosylation (CDG) type Ia are muscle hypotonia, cerebellar hypoplasia, ataxia, mental retardation, ophthalmologic involvement, failure to thrive, abnormal fat distribution, and hepatopathy. It has been postulated that some Joubert syndrome patients might have an underlying disorder of protein glycosylation. Material/Methods: Screening for disorders of glycosylation was performed in five children diagnosed with Joubert syndrome. Data were retrospectively collected from clinical charts, the patients were reexamined by clinical geneticists, and available neuro-imaging data were also reanalyzed. Diagnoses were established based on results of serum transferrin isoelectric focusing, phosphomannomutase enzyme activity measurements, and DNA mutation analysis. Results: We confirmed the diagnoses of CDG type Ia in two of the five children originally diagnosed with Joubert syndrome. The symptoms of the two syndromes were clearly distinguishable. Conclusions: Syndromic patients with congenital vermis malformations should be screened for congenital disorders of glycosylation.

AB - Background: The features of Joubert syndrome include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements. Common symptoms in congenital disorders of glycosylation (CDG) type Ia are muscle hypotonia, cerebellar hypoplasia, ataxia, mental retardation, ophthalmologic involvement, failure to thrive, abnormal fat distribution, and hepatopathy. It has been postulated that some Joubert syndrome patients might have an underlying disorder of protein glycosylation. Material/Methods: Screening for disorders of glycosylation was performed in five children diagnosed with Joubert syndrome. Data were retrospectively collected from clinical charts, the patients were reexamined by clinical geneticists, and available neuro-imaging data were also reanalyzed. Diagnoses were established based on results of serum transferrin isoelectric focusing, phosphomannomutase enzyme activity measurements, and DNA mutation analysis. Results: We confirmed the diagnoses of CDG type Ia in two of the five children originally diagnosed with Joubert syndrome. The symptoms of the two syndromes were clearly distinguishable. Conclusions: Syndromic patients with congenital vermis malformations should be screened for congenital disorders of glycosylation.

KW - CDG

KW - Glycosylation

KW - Joubert syndrome

KW - Vermis hypoplasia

UR - http://www.scopus.com/inward/record.url?scp=4444228792&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=4444228792&partnerID=8YFLogxK

M3 - Article

C2 - 15277997

AN - SCOPUS:4444228792

VL - 10

JO - Medical Science Monitor

JF - Medical Science Monitor

SN - 1234-1010

IS - 8

ER -