Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Langer-Mesomelie

Die Langer mesomelische Dysplasie ist ein mesomeler Kleinwuchs, Radius, Ulna, Tibia und Fibula betreffend. Der Erkrankung liegen Mutationen des SHOX-Gens zugrunde, welches sich auf beiden Gonosomen befindet. Die Vererbung ist pseudo-autosomal rezessiv. Kinder können jedoch aufgrund der Haploinsuffizienz einen SHOX-bedingten Kleinwuchs oder ein Leri-Layani-Weill-Syndrom entwickeln.

Gliederung

Störungen der Regulation des Wachstums
Kleinwuchs, SHOX-bedingt
Kombinierter Hypophysenhormon-Mangel
Syndromale Wachstumsstörung
Wachstumshormon-Mangel
Wachstumshormon-Unempfindlichkeit
Wachstumshormon-Überempfindlichkeit

Referenzen:

1.

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.

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

Robertson SP et al. (2000) Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.

[^]
8.

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

[^]
9.

BLOCKEY NJ et al. (1963) AN UNUSUAL SYMMETRICAL DISTAL LIMB DEFORMITY IN SIBLINGS.

[^]
10.

Evans MI et al. (1988) Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism.

[^]
11.

Goldblatt J et al. (1987) Heterozygous manifestations of Langer mesomelic dysplasia.

[^]
12.

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

[^]
13.

Langer LO et al. (1967) Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.

[^]
14.

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

[^]
15.

Fryns JP et al. (1995) The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?

[^]