Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Simpson-Golabi-Behmel-Syndrom

Das Simpson-Golabi-Behmel-Syndrom ist ein x-chromosomales Fehlbildungssyndrom, welches durch Mutationen im GPC3- oder OFD1-Gen ausgelöst wird. Zu den Merkmalen gehören prä- und postnataler Großwuchs, faziale und andere viszerale und skeletale Dysmorphien. Organomegalie und ein erhöhtes Tumorrisiko.

Gliederung

Angeborene Skelettfelbildungen
Al-Gazali-Bakalinova-Syndrom
Brachydaktylie
Branchio-okulo-faziales Syndrom
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Hydrolethalus 2
Kongenitale Kontraktur-Arachnodaktylie
Lakrimo-aurikulo-dento-digitales Syndrom
Lippen-Kiefer-Gaumenspalte 11
Multiple Synostosen
Orofaciodigitales Syndrom
Parodontales Ehlers-Danlos-Syndrom
Proximaler Symphalangismus
Renale tubuläre Azidose mit Arthrogrypose
Simpson-Golabi-Behmel-Syndrom
Simpson-Golabi-Behmel-Syndrom 1
GPC3
Simpson-Golabi-Behmel-Syndrom 2
OFD1
Stapesankylose mit breiten Daumen und Zehen
Syndaktylie Typ 5
Syndrom der multiplen Synostosen 3
Synpolydaktylie Typ 1
Tarsal-Karpal-Fusions-Syndrom
Tatton-Brown-Rahman-Syndrom
Townes-Brocks-Syndrome
Trigonocephalie 2
Van Maldergem-Syndrom 2

Referenzen:

1.

Pilia G et. al. (1996) Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.

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2.

Xuan JY et. al. (1999) A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.

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3.

Rodríguez-Criado G et. al. (2005) Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

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4.

Sakazume S et. al. (2007) GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.

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5.

Romanelli V et. al. (2007) Germinal mosaicism in Simpson-Golabi-Behmel syndrome.

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6.

Pénisson-Besnier I et. al. (2008) Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.

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7.

Budny B et. al. (2006) A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

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8.

Gurrieri F et. al. (1992) Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome.

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9.

Hughes-Benzie R et. al. (1992) The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.

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10.

Hughes-Benzie RM et. al. () Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.

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11.

König R et. al. () Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias.

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12.

Behmel A et. al. () A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.

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13.

Neri G et. al. () Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.

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14.

Opitz JM et. al. () Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.

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15.

Niikawa N et. al. (1986) The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.

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16.

Punnett HH et. al. (1974) An (X;1) translocation, balanced, 46 chromosomes. Repository identification no. GM-97.

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17.

Behmel A et. al. (1984) A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?

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18.

Golabi M et. al. (1984) A new X-linked mental retardation-overgrowth syndrome.

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19.

None (1984) The Golabi-Rosen syndrome--report of a second family.

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20.

Kajii T et. al. (1984) The Golabi-Rosen syndrome.

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21.

Tsukahara M et. al. (1984) A Weaver-like syndrome in a Japanese boy.

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22.

Verloes A et. al. (1995) Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.

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23.

Xuan JY et. al. (1994) Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.

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24.

Orth U et. al. (1994) Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.

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25.

None (1994) Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation.

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26.

Chen E et. al. (1993) Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case.

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27.

Terespolsky D et. al. (1995) Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.

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28.

Neri G et. al. (1998) Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome.

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29.

Veugelers M et. al. (1998) GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome.

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30.

Lin AE et. al. (1999) Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.

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31.

Kim S et. al. (1999) Choledochal cyst in Simpson-Golabi-Behmel syndrome.

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32.

Li M et. al. (2001) GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

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33.

Cureton E et. al. (2007) Hepatic vascular malformation in a patient with Simpson-Golabi-Behmel syndrome.

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34.

Griffith CB et. al. (2009) Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome.

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35.

Gertsch E et. al. (2010) Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome.

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36.

Yano S et. al. (2011) Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.

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37.

Waterson J et. al. (2010) Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome.

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38.

Gurrieri F et. al. (2011) The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

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Update: 11. Oktober 2018

 

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