Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Dyschondrosteosis Leri-Weill

Leri-Layani-Weill-Syndrom ist ein mesomeler Kleinwuchs (Radius, Ulna, Tibia, Fibula) mit Störungen der Knochen- und Knorpelbildung und Madelung-Deformität. Der Erkrankung liegen Mutationen des SHOX-Gens zugrunde, welches sich auf beiden Gonosomen befindet. Das Vererbungsmuster ist je nach Mutation dominant oder rezessiv, auch die Penetranz ist variabel.

Symptome

Wachstumsstörung
Der dysproportionale Kleinwuchs ist eine Mesomelie.
Dysmorphie
Typisch ist die Madlung Deformität des Handgelenks, die sich im Verlaufe des Kindesalters entwickelt.

Gliederung

Kleinwuchs, SHOX-bedingt
Dyschondrosteosis Leri-Weill
SHOX
Langer-Mesomelie
X-chromosomaler familiärer Kleinwuchs
Y-chromosomaler familiärer Kleinwuchs

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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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8.

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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9.

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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10.

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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11.

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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12.

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

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13.

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

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14.

Espiritu C et al. (1975) Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.

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15.

Fryns JP et al. (1979) Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.

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16.

Kunze J et al. (1980) Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.

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17.

Stuppia L et al. (1999) Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.

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18.

Calabrese G et al. (1999) X/Y translocation in a family with Leri-Weill dyschondrosteosis.

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19.

Ogata T et al. (2001) SHOX haploinsufficiency and overdosage: impact of gonadal function status.

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20.

Spitz F et al. (2002) A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.

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21.

Ross JL et al. (2003) Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

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22.

Roubicek M et al. (2003) SHOX deficiency phenotypes.

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23.

LANGER LO et al. (1965) DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES.

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24.

Binder G et al. (2003) Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.

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25.

Ross JL et al. (2005) The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.

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26.

Anton JI et al. (1938) MADELUNG'S DEFORMITY.

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27.

Rullier J et al. (1968) [Familial dyschondrosteosis. Study of 3 cases (mother and her 2 sons)].

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28.

Carter AR et al. (1974) Dyschondrosteosis (mesomelic dwarfism)--a family study.

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29.

Lisker R et al. (1972) Dyschondrosteosis. A Mexican family with two affected males.

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30.

Felman AH et al. (1969) Madelung's deformity: observations in 17 patients.

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31.

Nassif R et al. (1970) Madelung's deformity with conductive hearing loss.

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32.

Felman AH et al. (1970) Dyschondrosteose. Mesomelic dwarfism of Lwei and Weill.

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33.

Herdman RC et al. (1966) Dyschondrosteosis. The most common cause of Madelung's deformity.

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34.

Hecht F et al. (1984) Linkage of skeletal dysplasia gene to t(2;8)(q32;p13) chromosome translocation breakpoint.

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35.

Ventruto V et al. (1983) Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).

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36.

Fasanelli S et al. (1983) A possibly new form of familial bone dysplasia resembling dyschondrosteosis.

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37.

Dawe C et al. (1982) Clinical variation in dyschondrosteosis. A report on 13 individuals in 8 families.

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38.

Lichtenstein JR et al. (1980) Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis.

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39.

Gokhale DA et al. (1995) Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis.

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40.

Fujimoto M et al. (1998) The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

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