Literature DB >> 16720459

The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.

William B Dobyns1.   

Abstract

UNLABELLED: Our modern concepts of genetic inheritance originated nearly a century ago. Early concepts of dominant and recessive inheritance were developed in insects and were subsequently applied to sex-linked inheritance in mammals. Years of clinical experience, however, suggest that the modern-day rules for X-linked dominant and recessive diseases do not explain why so many female carriers of X-linked 'recessive' disorders have an abnormal phenotype. In a review of 32 X-linked diseases we revealed an unexpectedly high degree of intermediate disease penetrance in females that cannot be explained by existing concepts. We recommend that the terms 'dominant' and recessive' be abandoned and that these disorders be referred to as X-linked. In this review we will present modified rules for X-linked inheritance and propose hypotheses related to the potential mechanisms that may explain differences in disease expression in females.
CONCLUSION: Past assumptions regarding factors that may affect phenotype in heterozygous females do not capture the extraordinarily variable expressivity of X-linked disorders in females and need to be revisited.

Entities:  

Mesh:

Year:  2006        PMID: 16720459     DOI: 10.1080/08035320600618759

Source DB:  PubMed          Journal:  Acta Paediatr Suppl        ISSN: 0803-5326


  14 in total

1.  A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

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2.  BEXCIS: Bayesian methods for estimating the degree of the skewness of X chromosome inactivation.

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Review 3.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

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Review 5.  Sexual dimorphisms in genetic loci linked to body fat distribution.

Authors:  Sara L Pulit; Tugce Karaderi; Cecilia M Lindgren
Journal:  Biosci Rep       Date:  2017-02-03       Impact factor: 3.840

6.  A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

Authors:  Zhijie Niu; Yong Feng; Lingyun Mei; Jie Sun; Xueping Wang; Juncheng Wang; Zhengmao Hu; Yunpeng Dong; Hongsheng Chen; Chufeng He; Yalan Liu; Xinzhang Cai; Xuezhong Liu; Lu Jiang
Journal:  PLoS One       Date:  2017-05-25       Impact factor: 3.240

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Authors:  Carlos R Ferreira; Clara D M van Karnebeek; Jerry Vockley; Nenad Blau
Journal:  Genet Med       Date:  2018-06-08       Impact factor: 8.822

8.  A pilot study of circulating microRNAs as potential biomarkers of Fabry disease.

Authors:  Giuseppe Cammarata; Simone Scalia; Paolo Colomba; Carmela Zizzo; Antonio Pisani; Eleonora Riccio; Michaela Montalbano; Riccardo Alessandro; Antonello Giordano; Giovanni Duro
Journal:  Oncotarget       Date:  2018-06-08

9.  Fabry disease in children and the effects of enzyme replacement treatment.

Authors:  Guillem Pintos-Morell; Michael Beck
Journal:  Eur J Pediatr       Date:  2009-02-26       Impact factor: 3.183

10.  Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Authors:  Marco Savarese; Olimpia Musumeci; Teresa Giugliano; Anna Rubegni; Chiara Fiorillo; Fabiana Fattori; Annalaura Torella; Roberta Battini; Carmelo Rodolico; Aniello Pugliese; Giulio Piluso; Lorenzo Maggi; Adele D'Amico; Claudio Bruno; Enrico Bertini; Filippo Maria Santorelli; Marina Mora; Antonio Toscano; Carlo Minetti; Vincenzo Nigro
Journal:  Neuromuscul Disord       Date:  2016-02-17       Impact factor: 4.296

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