Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Kleinwuchs-Homeobox

SHOX-Gen

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Langer-Mesomelie
SHOX
Dyschondrosteosis Leri-Weill
SHOX

Referenzen:

1.

Spranger S et al. (1999) Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

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2.

Kosho T et al. (1999) Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

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3.

Schiller S et al. (2000) Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.

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4.

Clement-Jones M et al. (2000) The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

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5.

Ogata T et al. (2000) Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.

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6.

Grigelioniene G et al. (2000) Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.

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7.

Huber C et al. (2001) SHOX point mutations in dyschondrosteosis.

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8.

Ross JL et al. (2001) Phenotypes Associated with SHOX Deficiency.

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9.

Rao E et al. (2001) The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.

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10.

Ogata T et al. (2002) SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

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11.

Rappold GA et al. (2002) Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

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12.

May CA et al. (2002) Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.

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13.

Shears DJ et al. (2002) Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

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14.

Zinn AR et al. (2002) Complete SHOX deficiency causes Langer mesomelic dysplasia.

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15.

Niesler B et al. (2002) The human SHOX mutation database.

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16.

Morizio E et al. (2003) Deletion of the SHOX gene in patients with short stature of unknown cause.

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17.

Ogata T et al. (1992) Chromosomal localisation of a pseudoautosomal growth gene(s).

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18.

Sabherwal N et al. (2004) A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

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19.

Sabherwal N et al. (2004) Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.

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20.

Thomas NS et al. (2004) SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.

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21.

Binder G et al. (2004) SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.

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22.

Schneider KU et al. (2005) Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

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23.

Schneider KU et al. (2005) Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.

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24.

Benito-Sanz S et al. (2005) A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

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25.

Fukami M et al. (2006) Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.

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26.

Ogata T et al. (1992) Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region.

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27.

Zinn AR et al. (2006) A second recombination hotspot associated with SHOX deletions.

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28.

Gatta V et al. (2007) Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

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29.

Rappold G et al. (2007) Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

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30.

Sabherwal N et al. (2007) Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.

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31.

Marchini A et al. (2007) BNP is a transcriptional target of the short stature homeobox gene SHOX.

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32.

Bertorelli R et al. (2007) The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.

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33.

Bleyl SB et al. (2007) Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

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34.

Henke A et al. (1991) Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.

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35.

Chen J et al. (2009) Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.

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36.

Barca-Tierno V et al. (2011) Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

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37.

Ballabio A et al. (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

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38.

Zuffardi O et al. (1982) The role of Yp in sex determination: new evidence from X/Y translocations.

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39.

Pfeiffer RA et al. (1980) Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.

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40.

Kuznetzova T et al. (1994) X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.

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41.

Kivlin JD et al. (1993) Brachymesomelia and Peters anomaly: a new syndrome.

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42.

Ogata T et al. (1995) Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).

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43.

Rao E et al. (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.

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44.

Rao E et al. (1997) FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.

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45.

Ellison JW et al. (1997) PHOG, a candidate gene for involvement in the short stature of Turner syndrome.

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46.

Guichet A et al. (1997) Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?

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47.

Belin V et al. (1998) SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).

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48.

Shears DJ et al. (1998) Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

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Update: 26. September 2018