X-linked recessive inheritance of radial ray deficiencies in a family with four affected males

Galjaard, RJH; Kostakoglu, N; Hoogeboom, JJM; Breedveld, GJ; van der Linde, HC; Hovius, SER; Oostra, BA; Sandkuijl, LA; Akarsu, AYŞE; Heutink, P

doi:10.1038/sj.ejhg.5200692

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males

Galjaard R., Kostakoglu N., Hoogeboom J., Breedveld G., van der Linde H., Hovius S., ...More

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.9, no.9, pp.653-658, 2001 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 9 Issue: 9
Publication Date: 2001
Doi Number: 10.1038/sj.ejhg.5200692
Journal Name: EUROPEAN JOURNAL OF HUMAN GENETICS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.653-658
Open Archive Collection: AVESIS Open Access Collection
Hacettepe University Affiliated: Yes

Abstract

Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis.