X-inactivation and human disease: X-linked dominant male-lethal disorders

Franco, Brunella; Ballabio, Andrea

doi:10.1016/j.gde.2006.04.012

Cited by 76 publications

(62 citation statements)

References 41 publications

(26 reference statements)

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“…Several X-linked disorders are lethal in males, and have a variable phenotype in females (Franco and Ballabio 2006) (Table 4). In females with Rett syndrome disease severity varies and XCI is usually random.…”

Section: X-linked Disorders With Reduced Viability In Malesmentioning

confidence: 99%

X chromosome inactivation in clinical practice

Ørstavik

2009

Hum Genet

111

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X chromosome inactivation (XCI) is the transcriptional silencing of the majority of genes on one of the two X chromosomes in mammalian females. Females are, therefore, mosaics for two cell lines, one with the maternal X and one with the paternal X as the active chromosome. The relative proportion of the two cell lines, the X inactivation pattern, may be analyzed by simple assays in DNA from available tissues. This review focuses on medical issues related to XCI in X-linked disorders, and on the value of X inactivation analysis in clinical practice.

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Section: X-linked Disorders With Reduced Viability In Malesmentioning

confidence: 99%

X chromosome inactivation in clinical practice

Ørstavik

2009

Hum Genet

111

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“…This girl was not deaf (the other major feature), but Wildervanck syndrome is quite variable in degree of deafness, presence and pattern of ocular motility disturbance, characteristics of the cervical spine abnormality, and potential additional presence of brainstem developmental anomalies, other vertebral and orthopedic abnormalities, and speech and neck developmental abnormalities. 24 Perhaps most tellingly, Wildervanck is now commonly assumed to be due to an X chromosome abnormality, [25][26][27] and she had no obvious abnormality of the X chromosome on array CGH. As in this patient, KFS is commonly associated with diastematomyelia, 14,28,29 but the genetics of this association is not yet understood.…”

Section: Discussionmentioning

confidence: 99%

Microdeletions involving Chromosomes 12 and 22 Associated with Syndromic Duane Retraction Syndrome

Abu-Amero¹,

Kondkar²,

Oystreck³

et al. 2014

Ophthalmic Genetics

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“…For all these disorders the intrafamilial variability could be the result of the different ability of various cell types to inactivate the affected X chromosome [Franco and Ballabio, 2006]. Zhang et al [2000] mapped the gene of this syndrome to an 8.7-Mb region telomeric to DXS548 on the terminal part of the long arm of X chromosome.…”

Section: Discussionmentioning

confidence: 99%

Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family

Baroncini

Castelluccio

Morleo

et al. 2006

American J of Med Genetics Pt A

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Terminal osseous dysplasia with pigmentary defects is an extremely rare condition characterized by the triad of pigmentary anomalies of the skin, skeletal abnormalities of the limbs and recurring digital fibromatosis of childhood, with considerable interfamilial and intrafamilial variability of expression. It has recently been added to the small group of X-linked dominant disorder with prenatal male lethality on the basis of a four-generation pedigree in which only females were affected, male progeny was decreased and the number of spontaneous abortions was increased. In this clinical report, we describe a 2-year-old girl with full expression of the syndrome including skin defects, skeletal anomalies and recurrent fibromatosis of fingers and toes and her mother who presents with only multiple hypertrophic oral frenula. As previously demonstrated, our patients also show an extremely skewed X-inactivation on blood cells, strongly suggesting that there is selective disadvantage for cells carrying the mutated gene on their active X chromosome. Terminal osseous dysplasia with pigmentary defects could represent an additional example of extreme intrafamilial variability as already described for other X-linked dominant disorders.

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X-inactivation and human disease: X-linked dominant male-lethal disorders

Cited by 76 publications

References 41 publications

X chromosome inactivation in clinical practice

X chromosome inactivation in clinical practice

Microdeletions involving Chromosomes 12 and 22 Associated with Syndromic Duane Retraction Syndrome

Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family

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