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.
Similar content being viewed by others
Article PDF
References
Froster UG, Baird PA . Upper limb deficiencies and associated malformations: a population-based study Am J Med Genet 1992 44: 767–781
Tentamy SA, McKusick VA . Radial defects; in The genetics of hand malformations. Alan R Liss, Inc., for the National Foundation-March of Dimes New York, BD:OAS 1978 14: 44–48
Lomas FE, Dahlstrom JE, Ford JH . VACTERL with hydrocephalus: family with X-linked VACTERL-H Am J Med Genet 1998 76: 74–78
Froster UG, Wallner SJ, Reusche E, Schwinger E, Rehder H . VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers Am J Med Genet 1996 62: 169–172
Gibson CC, Genest DR, Bieber FR, Holmes LB . X-linked phenotype of absent radius and anogenital anomalies Am J Med Genet 1993 45: 743–744
Miller SA, Dykes DD, Polesky HF . A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 1988 16: 1215
Dib C, Fauré S, Fizames C et al. The Généthon human genetic linkage map Nature 1996 380: A124–129
Reed PW, Davies JL, Copeman JB et al. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping Nat Genet 1994 7: 390–395
Weber JL, May PE . Abudant class of human DNA polymorphisms which can be typed using polymerase chain reaction Am J Hum Genet 1989 44: 388–396
Lathrop GM, Lalouel JM . Easy calculations of lodscores and genetic risks on a small computer Am J Hum Genet 1984 36: 460–465
Nagaraja R, McMillan S, Kere J et al. X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content Gen Res 1997 7: 210–222
Hall J . Thrombocytopenia and absent radius (TAR) syndrome J Med Genet 1987 24: 79–83
Giampietro PH, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD . The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry Pediatrics 1993 91: no 6 1116–1120
Yi Li Q, Newbury-Ecob RA, Terrett JA et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family Nat Genet 1997 15: 21–29
Basson CT, Bachinsky DR, Lin RC et al. Mutations in human limb and cardiac malformation in Holt-Oram syndrome Nat Genet 1997 15: 30–35
Bamshad M, Lin R, Law DJ, et al. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome Nat Genet 1997 16: 311–315
Heikel HVA . Aplasia and hypoplasia of the radius Acta Orthop Scand Suppl 1959 39: 9–150
Flatt AE . Radial clubhand; in The care of congenital hand anomalies Quality Medical Publishing Inc, St. Louis, Missouri 1994 2nd ed pp 366–341
Duncan GJ, Omer GE, Garcia JF, Latimer E . Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome J Hand Surg 1993 18A: 588–592
Hinchliffe JR, Ede DA . Limb development in the polydactylous talpid3 mutant of the fowl J Embryol Exp Morp 1967 17: 385–404
Dawd DS, Hinchliffe JR . Cell death in the “opaque patch” in the central mesenchyme of the developing chick limb: a cytological, cytochemical and electron microscopic analysis J Embryol Exp Morp 1971 3: 401–424
Rajcan-Separovic E, Liston P, Lefebvre C, Korneluk RG . Assignment of human inhibitor of apoptosis protein (IAP) genes xiap, hiap-1, and hiap-2 to chromosomes Xq25 and 11q22-23 by fluorescence in situ hybridization Genomics 1996 37: 404–406
Liston P, Roy N, Tamai K et al. Suppression of apoptosis in mammalian cells by NAIP and a related ramily of IAP genes Nature 1996 379: 349–353
Frattini A, Faranda S, Bagnasco L et al. Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25 Gene 1997 192: 291–298
Acknowledgements
We thank the family for their cooperation. R Koppenol and T de Vries Lentsch are acknowledged for their work on the illustrations. We thank Prof Dr H Galjaard and the foundation of Clinical Genetics Rotterdam for their support.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Galjaard, RJ., Kostakoglu, N., Hoogeboom, J. et al. X-linked recessive inheritance of radial ray deficiencies in a family with four affected males. Eur J Hum Genet 9, 653–658 (2001). https://doi.org/10.1038/sj.ejhg.5200692
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200692