Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Y-chromosomaler familiärer Kleinwuchs

Der Y-chromosomale familiäre Kleinwuchs ist eine pseudo-autosomal dominant vererbte Erkrankung, die auf der Haploinsuffizienz aufgrund einer Mutation in der pseudoautosomalen Region des Y-Chromosoms beruht. Die Penetranz ist auch innerhalb einer Familie sehr variabel, so dass bei schwerster Ausprägung auch eine Dyschondrosteosis Leri-Weill auftreten kann.

Symptome

Wachstumsstörung
Der Kleinwuchs ist dysproportional mit Zeichen einer Mesomelie.
Dysmorphie
Die Skelettfehlbildungen sind mesomelisch. Typisch ist die Madlung Deformität des Handgelenks.

Gliederung

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

Referenzen:

1.

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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2.

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

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3.

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

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4.

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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5.

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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6.

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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7.

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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8.

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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9.

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

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10.

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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11.

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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12.

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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13.

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

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14.

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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15.

Deng HW et al. (2002) A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature.

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16.

Blum WF et al. (2007) Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial.

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17.

Shanske A et al. (1999) Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature.

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18.

Benito-Sanz S et al. (2012) Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.

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