Mutational spectrum of Smith-Lemli-Opitz syndrome patients in hungary

I. Balogh, K. Koczok, G. P. Szabó, O. Török, K. Hadzsiev, G. Csábi, L. Balogh, E. Dzsudzsák, E. Ajzner, L. Szabó, V. Csákváry, A. V. Oláh

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical diagnosis is based on increased concentration of 7-dehydrocholesterol (7-DHC) in the patient serum. Both life expectancy and quality of life are severely affected by the disease. The estimated prevalence of SLO syndrome ranges between 1:20,000 and 1:40,000 among Caucasians. Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80% of the cases. These mutations show a large interethnic variability. There are no mutation distribution data from Hungary to date. Thirteen patients were diagnosed with SLO syndrome in our laboratory. As first-line tests, serum 7-DHC and total cholesterol were measured and, in positive cases, molecular genetic analysis of the DHCR7 gene was performed. Complete genetic background of the disease could be identified in 12 cases. In 1 case only 1 mutation was detected in a heterozygote form. One patient was homozygous for the common splice site mutation c.964-1G>C, while all other patients were compound heterozygotes. One novel missense mutation, c.374A>G (p.Tyr125Cys) was identified.

Original languageEnglish
Pages (from-to)215-222
Number of pages8
JournalMolecular Syndromology
Volume3
Issue number5
DOIs
Publication statusPublished - Nov 2012

Fingerprint

Smith-Lemli-Opitz Syndrome
Hungary
Mutation
Heterozygote
Cholesterol
Quality of Life
Multiple Abnormalities
Inborn Genetic Diseases
Missense Mutation
Life Expectancy
Serum
Intellectual Disability
Molecular Biology
Genes

Keywords

  • 7-Dehydrocholesterol
  • Cholesterol
  • DHCR7
  • Hungary
  • Mutation
  • SLO syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Balogh, I., Koczok, K., Szabó, G. P., Török, O., Hadzsiev, K., Csábi, G., ... Oláh, A. V. (2012). Mutational spectrum of Smith-Lemli-Opitz syndrome patients in hungary. Molecular Syndromology, 3(5), 215-222. https://doi.org/10.1159/000343923

Mutational spectrum of Smith-Lemli-Opitz syndrome patients in hungary. / Balogh, I.; Koczok, K.; Szabó, G. P.; Török, O.; Hadzsiev, K.; Csábi, G.; Balogh, L.; Dzsudzsák, E.; Ajzner, E.; Szabó, L.; Csákváry, V.; Oláh, A. V.

In: Molecular Syndromology, Vol. 3, No. 5, 11.2012, p. 215-222.

Research output: Contribution to journalArticle

Balogh, I, Koczok, K, Szabó, GP, Török, O, Hadzsiev, K, Csábi, G, Balogh, L, Dzsudzsák, E, Ajzner, E, Szabó, L, Csákváry, V & Oláh, AV 2012, 'Mutational spectrum of Smith-Lemli-Opitz syndrome patients in hungary', Molecular Syndromology, vol. 3, no. 5, pp. 215-222. https://doi.org/10.1159/000343923
Balogh I, Koczok K, Szabó GP, Török O, Hadzsiev K, Csábi G et al. Mutational spectrum of Smith-Lemli-Opitz syndrome patients in hungary. Molecular Syndromology. 2012 Nov;3(5):215-222. https://doi.org/10.1159/000343923
Balogh, I. ; Koczok, K. ; Szabó, G. P. ; Török, O. ; Hadzsiev, K. ; Csábi, G. ; Balogh, L. ; Dzsudzsák, E. ; Ajzner, E. ; Szabó, L. ; Csákváry, V. ; Oláh, A. V. / Mutational spectrum of Smith-Lemli-Opitz syndrome patients in hungary. In: Molecular Syndromology. 2012 ; Vol. 3, No. 5. pp. 215-222.
@article{9b64151ebbf94b36b51087d49b84b3e1,
title = "Mutational spectrum of Smith-Lemli-Opitz syndrome patients in hungary",
abstract = "Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical diagnosis is based on increased concentration of 7-dehydrocholesterol (7-DHC) in the patient serum. Both life expectancy and quality of life are severely affected by the disease. The estimated prevalence of SLO syndrome ranges between 1:20,000 and 1:40,000 among Caucasians. Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80{\%} of the cases. These mutations show a large interethnic variability. There are no mutation distribution data from Hungary to date. Thirteen patients were diagnosed with SLO syndrome in our laboratory. As first-line tests, serum 7-DHC and total cholesterol were measured and, in positive cases, molecular genetic analysis of the DHCR7 gene was performed. Complete genetic background of the disease could be identified in 12 cases. In 1 case only 1 mutation was detected in a heterozygote form. One patient was homozygous for the common splice site mutation c.964-1G>C, while all other patients were compound heterozygotes. One novel missense mutation, c.374A>G (p.Tyr125Cys) was identified.",
keywords = "7-Dehydrocholesterol, Cholesterol, DHCR7, Hungary, Mutation, SLO syndrome",
author = "I. Balogh and K. Koczok and Szab{\'o}, {G. P.} and O. T{\"o}r{\"o}k and K. Hadzsiev and G. Cs{\'a}bi and L. Balogh and E. Dzsudzs{\'a}k and E. Ajzner and L. Szab{\'o} and V. Cs{\'a}kv{\'a}ry and Ol{\'a}h, {A. V.}",
year = "2012",
month = "11",
doi = "10.1159/000343923",
language = "English",
volume = "3",
pages = "215--222",
journal = "Molecular Syndromology",
issn = "1661-8769",
publisher = "S. Karger AG",
number = "5",

}

TY - JOUR

T1 - Mutational spectrum of Smith-Lemli-Opitz syndrome patients in hungary

AU - Balogh, I.

AU - Koczok, K.

AU - Szabó, G. P.

AU - Török, O.

AU - Hadzsiev, K.

AU - Csábi, G.

AU - Balogh, L.

AU - Dzsudzsák, E.

AU - Ajzner, E.

AU - Szabó, L.

AU - Csákváry, V.

AU - Oláh, A. V.

PY - 2012/11

Y1 - 2012/11

N2 - Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical diagnosis is based on increased concentration of 7-dehydrocholesterol (7-DHC) in the patient serum. Both life expectancy and quality of life are severely affected by the disease. The estimated prevalence of SLO syndrome ranges between 1:20,000 and 1:40,000 among Caucasians. Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80% of the cases. These mutations show a large interethnic variability. There are no mutation distribution data from Hungary to date. Thirteen patients were diagnosed with SLO syndrome in our laboratory. As first-line tests, serum 7-DHC and total cholesterol were measured and, in positive cases, molecular genetic analysis of the DHCR7 gene was performed. Complete genetic background of the disease could be identified in 12 cases. In 1 case only 1 mutation was detected in a heterozygote form. One patient was homozygous for the common splice site mutation c.964-1G>C, while all other patients were compound heterozygotes. One novel missense mutation, c.374A>G (p.Tyr125Cys) was identified.

AB - Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical diagnosis is based on increased concentration of 7-dehydrocholesterol (7-DHC) in the patient serum. Both life expectancy and quality of life are severely affected by the disease. The estimated prevalence of SLO syndrome ranges between 1:20,000 and 1:40,000 among Caucasians. Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80% of the cases. These mutations show a large interethnic variability. There are no mutation distribution data from Hungary to date. Thirteen patients were diagnosed with SLO syndrome in our laboratory. As first-line tests, serum 7-DHC and total cholesterol were measured and, in positive cases, molecular genetic analysis of the DHCR7 gene was performed. Complete genetic background of the disease could be identified in 12 cases. In 1 case only 1 mutation was detected in a heterozygote form. One patient was homozygous for the common splice site mutation c.964-1G>C, while all other patients were compound heterozygotes. One novel missense mutation, c.374A>G (p.Tyr125Cys) was identified.

KW - 7-Dehydrocholesterol

KW - Cholesterol

KW - DHCR7

KW - Hungary

KW - Mutation

KW - SLO syndrome

UR - http://www.scopus.com/inward/record.url?scp=84870833765&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84870833765&partnerID=8YFLogxK

U2 - 10.1159/000343923

DO - 10.1159/000343923

M3 - Article

VL - 3

SP - 215

EP - 222

JO - Molecular Syndromology

JF - Molecular Syndromology

SN - 1661-8769

IS - 5

ER -