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. 1994 Jul;31(7):507–517. doi: 10.1136/jmg.31.7.507

A gene map of congenital malformations.

A O Wilkie 1, J S Amberger 1, V A McKusick 1
PMCID: PMC1049971  PMID: 7966186

Abstract

Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed.

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Selected References

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  1. Ardinger H. H., Buetow K. H., Bell G. I., Bardach J., VanDemark D. R., Murray J. C. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet. 1989 Sep;45(3):348–353. [PMC free article] [PubMed] [Google Scholar]
  2. Baird P. A., Anderson T. W., Newcombe H. B., Lowry R. B. Genetic disorders in children and young adults: a population study. Am J Hum Genet. 1988 May;42(5):677–693. [PMC free article] [PubMed] [Google Scholar]
  3. Ballabio A. The rise and fall of positional cloning? Nat Genet. 1993 Apr;3(4):277–279. doi: 10.1038/ng0493-277. [DOI] [PubMed] [Google Scholar]
  4. Brook J. D., McCurrach M. E., Harley H. G., Buckler A. J., Church D., Aburatani H., Hunter K., Stanton V. P., Thirion J. P., Hudson T. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992 Feb 21;68(4):799–808. doi: 10.1016/0092-8674(92)90154-5. [DOI] [PubMed] [Google Scholar]
  5. Collins F. S. Positional cloning: let's not call it reverse anymore. Nat Genet. 1992 Apr;1(1):3–6. doi: 10.1038/ng0492-3. [DOI] [PubMed] [Google Scholar]
  6. Darling S. M., Abbott C. M. Mouse models of human single gene disorders. I: Nontransgenic mice. Bioessays. 1992 Jun;14(6):359–366. doi: 10.1002/bies.950140602. [DOI] [PubMed] [Google Scholar]
  7. Ewart A. K., Morris C. A., Atkinson D., Jin W., Sternes K., Spallone P., Stock A. D., Leppert M., Keating M. T. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993 Sep;5(1):11–16. doi: 10.1038/ng0993-11. [DOI] [PubMed] [Google Scholar]
  8. Fuchs E., Coulombe P. A. Of mice and men: genetic skin diseases of keratin. Cell. 1992 Jun 12;69(6):899–902. doi: 10.1016/0092-8674(92)90607-e. [DOI] [PubMed] [Google Scholar]
  9. Gärtner J., Moser H., Valle D. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet. 1992 Apr;1(1):16–23. doi: 10.1038/ng0492-16. [DOI] [PubMed] [Google Scholar]
  10. Harlow E. Retinoblastoma. For our eyes only. Nature. 1992 Sep 24;359(6393):270–271. doi: 10.1038/359270a0. [DOI] [PubMed] [Google Scholar]
  11. Holder S. E., Vintiner G. M., Farren B., Malcolm S., Winter R. M. Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. J Med Genet. 1992 Jun;29(6):390–392. doi: 10.1136/jmg.29.6.390. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Hästbacka J., de la Chapelle A., Kaitila I., Sistonen P., Weaver A., Lander E. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet. 1992 Nov;2(3):204–211. doi: 10.1038/ng1192-204. [DOI] [PubMed] [Google Scholar]
  13. Junien C. Beckwith-Wiedemann syndrome, tumourigenesis and imprinting. Curr Opin Genet Dev. 1992 Jun;2(3):431–438. doi: 10.1016/s0959-437x(05)80154-6. [DOI] [PubMed] [Google Scholar]
  14. Kwitek-Black A. E., Carmi R., Duyk G. M., Buetow K. H., Elbedour K., Parvari R., Yandava C. N., Stone E. M., Sheffield V. C. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet. 1993 Dec;5(4):392–396. doi: 10.1038/ng1293-392. [DOI] [PubMed] [Google Scholar]
  15. Lander E. S., Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science. 1987 Jun 19;236(4808):1567–1570. doi: 10.1126/science.2884728. [DOI] [PubMed] [Google Scholar]
  16. Ledbetter D. H. The 'colorizing' of cytogenetics: is it ready for prime time? Hum Mol Genet. 1992 Aug;1(5):297–299. doi: 10.1093/hmg/1.5.297. [DOI] [PubMed] [Google Scholar]
  17. McKusick V. A., Amberger J. S. The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993). J Med Genet. 1994 Apr;31(4):265–279. doi: 10.1136/jmg.31.4.265. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Rinchik E. M., Bultman S. J., Horsthemke B., Lee S. T., Strunk K. M., Spritz R. A., Avidano K. M., Jong M. T., Nicholls R. D. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993 Jan 7;361(6407):72–76. doi: 10.1038/361072a0. [DOI] [PubMed] [Google Scholar]
  19. Rosenthal A., Jouet M., Kenwrick S. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nat Genet. 1992 Oct;2(2):107–112. doi: 10.1038/ng1092-107. [DOI] [PubMed] [Google Scholar]
  20. Schmickel R. D. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr. 1986 Aug;109(2):231–241. doi: 10.1016/s0022-3476(86)80377-8. [DOI] [PubMed] [Google Scholar]
  21. Shimozawa N., Tsukamoto T., Suzuki Y., Orii T., Shirayoshi Y., Mori T., Fujiki Y. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science. 1992 Feb 28;255(5048):1132–1134. doi: 10.1126/science.1546315. [DOI] [PubMed] [Google Scholar]
  22. Spranger J., Benirschke K., Hall J. G., Lenz W., Lowry R. B., Opitz J. M., Pinsky L., Schwarzacher H. G., Smith D. W. Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr. 1982 Jan;100(1):160–165. doi: 10.1016/s0022-3476(82)80261-8. [DOI] [PubMed] [Google Scholar]
  23. Strathdee C. A., Gavish H., Shannon W. R., Buchwald M. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature. 1992 Apr 30;356(6372):763–767. doi: 10.1038/356763a0. [DOI] [PubMed] [Google Scholar]
  24. Sulisalo T., Sistonen P., Hästbacka J., Wadelius C., Mäkitie O., de la Chapelle A., Kaitila I. Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet. 1993 Apr;3(4):338–341. doi: 10.1038/ng0493-338. [DOI] [PubMed] [Google Scholar]
  25. Tatsumi K., Miyai K., Notomi T., Kaibe K., Amino N., Mizuno Y., Kohno H. Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nat Genet. 1992 Apr;1(1):56–58. doi: 10.1038/ng0492-56. [DOI] [PubMed] [Google Scholar]
  26. Tommerup N. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet. 1993 Sep;30(9):713–727. doi: 10.1136/jmg.30.9.713. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Wagstaff J., Knoll J. H., Glatt K. A., Shugart Y. Y., Sommer A., Lalande M. Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nat Genet. 1992 Jul;1(4):291–294. doi: 10.1038/ng0792-291. [DOI] [PubMed] [Google Scholar]
  28. Weksberg R., Shen D. R., Fei Y. L., Song Q. L., Squire J. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet. 1993 Oct;5(2):143–150. doi: 10.1038/ng1093-143. [DOI] [PubMed] [Google Scholar]
  29. Wilson D. I., Goodship J. A., Burn J., Cross I. E., Scambler P. J. Deletions within chromosome 22q11 in familial congenital heart disease. Lancet. 1992 Sep 5;340(8819):573–575. doi: 10.1016/0140-6736(92)92107-q. [DOI] [PubMed] [Google Scholar]
  30. Wilson G. N. Genomics of human dysmorphogenesis. Am J Med Genet. 1992 Jan 15;42(2):187–196. doi: 10.1002/ajmg.1320420211. [DOI] [PubMed] [Google Scholar]
  31. Winterpacht A., Hilbert M., Schwarze U., Mundlos S., Spranger J., Zabel B. U. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet. 1993 Apr;3(4):323–326. doi: 10.1038/ng0493-323. [DOI] [PubMed] [Google Scholar]
  32. van Heyningen V. Genetics. One gene--four syndromes. Nature. 1994 Jan 27;367(6461):319–320. doi: 10.1038/367319a0. [DOI] [PubMed] [Google Scholar]

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