Smith-Lemli-Opitz syndrome:Molecular-genetic analysis of ten
families

J 2000

Smith-Lemli-Opitz syndrome:Molecular-genetic analysis of ten families

KOZÁK, Libor, Hana FRANCOVÁ, Eva HRABINCOVÁ, Dagmar PROCHÁZKOVÁ, V. JUTTNEROVÁ et. al.

Základní údaje

Originální název

Smith-Lemli-Opitz syndrome:Molecular-genetic analysis of ten families

Autoři

KOZÁK, Libor, Hana FRANCOVÁ, Eva HRABINCOVÁ, Dagmar PROCHÁZKOVÁ, V. JUTTNEROVÁ, V. BZDÚCH a P. ŠIMEK

Vydání

JOURNAL OF Inherited Metabolic Disease, Lancaster (United Kingdom), SSIEM and Kluwer Academic Publisher, 2000, 0141-8955

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 1.307

Organizační jednotka

Přírodovědecká fakulta

Klíčová slova anglicky

Smith-Lemli-Opitz syndrome; SLOS; 7-dehydrocholesterol reductase; DHCR7; Czech; Slovak

Štítky

7-dehydrocholesterol reductase, Czech, DHCR7, SLOS, Slovak, Smith-Lemli-Opitz syndrome

Změněno: 2. 2. 2001 15:11, Mgr. Eva Hrabincová

Anotace

V originále

Smith-Lemli-Opitz syndrome (SLOS; McKusick 270400) is an autosomal recessive inherited metabolic-malformation disorder caused by deficient activity of 7-dehydrocholesterol reductase (DHCR7, E.C. 1.3.1.21), which catalyses the final step in the cholesterol-biosynthesis pathway. The clinical picture is characterized by a combination of congenital anomalies: microcephaly, hypotonia, incomplete development of the male genitalia, polydactyly, syndactyly of toes 2 and 3, cleft palate, heart and kidney malformations, failure to thrive and severe mental and growth retardation (Smith et al 1964). A decrease of plasma cholesterol and the accumulation of its precursor 7-dehydrocholesterol (7-DHC) is the biochemical hallmark in SLOS patients (Tint et al 1994). Cloning and sequncing of DHCR7 cDNA (Moebius et al 1998) and characterization of the human DHCR7 gene (Fitzky et al 1998) enabled investigation of defects of this gene at the DNA level. Several mutations have been described (Wassif et al 1998; Waterham et al 1998). Here we report the results of molecular analysis of the DHCR7 gene in 10 unrelated families with Smith-Lemli-Opitz syndrome. Results of mutation analyses are presented and compared with the clinical and biochemical data.

Citovat

KOZÁK, Libor, Hana FRANCOVÁ, Eva HRABINCOVÁ, Dagmar PROCHÁZKOVÁ, V. JUTTNEROVÁ, V. BZDÚCH a P. ŠIMEK. Smith-Lemli-Opitz syndrome:Molecular-genetic analysis of ten families. JOURNAL OF Inherited Metabolic Disease. Lancaster (United Kingdom): SSIEM and Kluwer Academic Publisher, 2000, č. 23, s. 409-412. ISSN 0141-8955.

@article{347091,
   author = {Kozák, Libor and Francová, Hana and Hrabincová, Eva and Procházková, Dagmar and Juttnerová, V. and Bzdúch, V. and Šimek, P.},
   article_location = {Lancaster (United Kingdom)},
   article_number = {23},
   keywords = {Smith-Lemli-Opitz syndrome; SLOS; 7-dehydrocholesterol reductase; DHCR7; Czech; Slovak},
   language = {eng},
   issn = {0141-8955},
   journal = {JOURNAL OF Inherited Metabolic Disease},
   title = {Smith-Lemli-Opitz syndrome:Molecular-genetic analysis of ten families},
   year = {2000}
}

TY  - JOUR
ID  - 347091
AU  - Kozák, Libor - Francová, Hana - Hrabincová, Eva - Procházková, Dagmar - Juttnerová, V. - Bzdúch, V. - Šimek, P.
PY  - 2000
TI  - Smith-Lemli-Opitz syndrome:Molecular-genetic analysis of ten families
JF  - JOURNAL OF Inherited Metabolic Disease
IS  - 23
SP  - 409
EP  - 409
PB  - SSIEM and Kluwer Academic Publisher
SN  - 01418955
KW  - Smith-Lemli-Opitz syndrome
KW  - SLOS
KW  - 7-dehydrocholesterol reductase
KW  - DHCR7
KW  - Czech
KW  - Slovak
N2  - Smith-Lemli-Opitz syndrome (SLOS; McKusick 270400) is an autosomal recessive inherited metabolic-malformation disorder caused by deficient activity of 7-dehydrocholesterol reductase (DHCR7, E.C. 1.3.1.21), which catalyses the final step in the cholesterol-biosynthesis pathway. The clinical picture is characterized by a combination of congenital anomalies: microcephaly, hypotonia, incomplete development of the male genitalia, polydactyly, syndactyly of toes 2 and 3, cleft palate, heart and kidney malformations, failure to thrive and severe mental and growth retardation (Smith et al 1964). A decrease of plasma cholesterol and the accumulation of its precursor 7-dehydrocholesterol (7-DHC) is the biochemical hallmark in SLOS patients (Tint et al 1994). Cloning and sequncing of DHCR7 cDNA (Moebius et al 1998) and characterization of the human DHCR7 gene (Fitzky et al 1998) enabled investigation of defects of this gene at the DNA level. Several mutations have been described (Wassif et al 1998; Waterham et al 1998). Here we report the results of molecular analysis of the DHCR7 gene in 10 unrelated families with Smith-Lemli-Opitz syndrome. Results of mutation analyses are presented and compared with the clinical and biochemical data.
ER  -

KOZÁK, Libor, Hana FRANCOVÁ, Eva HRABINCOVÁ, Dagmar PROCHÁZKOVÁ, V. JUTTNEROVÁ, V. BZDÚCH a P. ŠIMEK. Smith-Lemli-Opitz syndrome:Molecular-genetic analysis of ten families. \textit{JOURNAL OF Inherited Metabolic Disease}. Lancaster (United Kingdom): SSIEM and Kluwer Academic Publisher, 2000, č.~23, s.~409-412. ISSN~0141-8955.

Podrobný výpis o publikaci