In mammals,X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos.X inactivation choice is usually random in embryo mammals,but several mechanisms can influence the choice determining skewed X inactivation.As a consequence,females heterozygous for X-linked recessive disease can mani- fest the full phenotype.Herein,we report a family with extremely skewed X inactivationt hat produced the full phenotype of Lowe syndrome,a recessive X-linked disease,in a female.The X chromosome inactivation studies detected an extremely skewed inactivation pattern with a ratio of 100:0 in the propositus as well as in five out of seven unaffected female relatives in four generations.The OCRL1‘‘denovo’’mutation resides in the active paternally inherited X chromosome.X chromosome haplotype analysis suggests the presence of a locus for the familial skewed X inactivation in chromosome Xq25 mostlikely controlling X chromo- some choice in X inactivation or cell proliferation.The description of this case adds Lowe syndrome to the list of X-linked disorders which may manifest the full phenotype in females because of the skewed X inacti- vation.

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

CAU, MILENA;ADDIS, MARIA;MELONI, CRISTIANA;
2006-01-01

Abstract

In mammals,X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos.X inactivation choice is usually random in embryo mammals,but several mechanisms can influence the choice determining skewed X inactivation.As a consequence,females heterozygous for X-linked recessive disease can mani- fest the full phenotype.Herein,we report a family with extremely skewed X inactivationt hat produced the full phenotype of Lowe syndrome,a recessive X-linked disease,in a female.The X chromosome inactivation studies detected an extremely skewed inactivation pattern with a ratio of 100:0 in the propositus as well as in five out of seven unaffected female relatives in four generations.The OCRL1‘‘denovo’’mutation resides in the active paternally inherited X chromosome.X chromosome haplotype analysis suggests the presence of a locus for the familial skewed X inactivation in chromosome Xq25 mostlikely controlling X chromo- some choice in X inactivation or cell proliferation.The description of this case adds Lowe syndrome to the list of X-linked disorders which may manifest the full phenotype in females because of the skewed X inacti- vation.
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/108855
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 8
  • Scopus 25
  • ???jsp.display-item.citation.isi??? 21
social impact