Partial Isodisomy for Maternal Chromosome 7 and Short Stature in an Individual with a Mutation at the COL1A2 Locus

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1992 Dec 1

PMID 1463018

Citations 34

Authors

L D Spotila

L Sereda

D J Prockop

Affiliations

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Abstract

Uniparental disomy for chromosome 7 has been described previously in two individuals with cystic fibrosis. Here, we describe a third case that was discovered because the proband was homozygous for a mutation in the COL1A2 gene for type I procollagen, although his mother was heterozygous and his father did not have the mutation. Phenotypically, the proband was similar to the two previously reported cases with uniparental disomy for chromosome 7, in that he was short in stature and growth retarded. Paternity was assessed with five polymorphic markers. Chromosome 7 inheritance in the proband was analyzed using 12 polymorphic markers distributed along the entire chromosome. Similar analysis of the proband's two brothers established the phase of the alleles at the various loci, assuming minimal recombination. The proband inherited only maternal alleles at five loci and was homozygous at all loci examined, except one. He was heterozygous for an RFLP at the IGBP-1 locus at 7p13-p12. The results suggest that the isodisomy was not complete because of a recombination event involving the proximal short arms of two maternal chromosomes. In addition, the phenotype of proportional dwarfism in the proband suggests imprinting of one or more growth-related genes on chromosome 7.

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References

Sillence D, Senn A, Danks D . Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979; 16(2):101-16. PMC: 1012733. DOI: 10.1136/jmg.16.2.101. View

Tromp G, Christiano A, Goldstein N, Indik Z, Boyd C, Rosenbloom J . A to G polymorphism in ELN gene. Nucleic Acids Res. 1991; 19(15):4314. PMC: 328609. DOI: 10.1093/nar/19.15.4314-a. View

Temple I, Cockwell A, Hassold T, Pettay D, Jacobs P . Maternal uniparental disomy for chromosome 14. J Med Genet. 1991; 28(8):511-4. PMC: 1016977. DOI: 10.1136/jmg.28.8.511. View

Engel E, DeLozier-Blanchet C . Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection. Am J Med Genet. 1991; 40(4):432-9. DOI: 10.1002/ajmg.1320400411. View

Byers P, Wallis G, Willing M . Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet. 1991; 28(7):433-42. PMC: 1016951. DOI: 10.1136/jmg.28.7.433. View

Weber J, Kwitek A, May P . Dinucleotide repeat polymorphism at the D1S102 locus. Nucleic Acids Res. 1990; 18(8):2199. PMC: 330725. View

Kuivaniemi H, Tromp G, Prockop D . Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J. 1991; 5(7):2052-60. DOI: 10.1096/fasebj.5.7.2010058. View

Cattanach B, Beechey C . Autosomal and X-chromosome imprinting. Dev Suppl. 1990; :63-72. View

Weber J, Kwitek A, May P, Killary A . Dinucleotide repeat polymorphism at the D4S174 locus. Nucleic Acids Res. 1990; 18(15):4636. PMC: 331327. View

10.

Alitalo T, Kontula K, Koistinen R, Aalto-Setala K, Julkunen M, Janne O . The gene encoding human low-molecular weight insulin-like growth-factor binding protein (IGF-BP25): regional localization to 7p12-p13 and description of a DNA polymorphism. Hum Genet. 1989; 83(4):335-8. DOI: 10.1007/BF00291377. View

11.

Lathrop G, OConnell P, Leppert M, Nakamura Y, Farrall M, Tsui L . Twenty-five loci form a continuous linkage map of markers for human chromosome 7. Genomics. 1989; 5(4):866-73. DOI: 10.1016/0888-7543(89)90128-6. View

12.

Barker D, Green P, Knowlton R, Schumm J, LANDER E, Oliphant A . Genetic linkage map of human chromosome 7 with 63 DNA markers. Proc Natl Acad Sci U S A. 1987; 84(22):8006-10. PMC: 299465. DOI: 10.1073/pnas.84.22.8006. View

13.

Litt M, White R . A highly polymorphic locus in human DNA revealed by cosmid-derived probes. Proc Natl Acad Sci U S A. 1985; 82(18):6206-10. PMC: 391021. DOI: 10.1073/pnas.82.18.6206. View

14.

Ngo K, Vergnaud G, Johnsson C, Lucotte G, Weissenbach J . A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet. 1986; 38(4):407-18. PMC: 1684810. View

15.

Engel E . A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet. 1980; 6(2):137-43. DOI: 10.1002/ajmg.1320060207. View

16.

Kirkels V, HUSTINX T, Scheres J . Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter. Clin Genet. 1980; 18(6):456-61. DOI: 10.1111/j.1399-0004.1980.tb01794.x. View

17.

Dean M, Drumm M, Stewart C, Gerrard B, Perry A, Hidaka N . Approaches to localizing disease genes as applied to cystic fibrosis. Nucleic Acids Res. 1990; 18(2):345-50. PMC: 330273. DOI: 10.1093/nar/18.2.345. View

18.

DeChiara T, Robertson E, Efstratiadis A . Parental imprinting of the mouse insulin-like growth factor II gene. Cell. 1991; 64(4):849-59. DOI: 10.1016/0092-8674(91)90513-x. View

19.

Fazio M, Mattei M, PASSAGE E, Chu M, Black D, Solomon E . Human elastin gene: new evidence for localization to the long arm of chromosome 7. Am J Hum Genet. 1991; 48(4):696-703. PMC: 1682959. View

20.

Spotila L, Constantinou C, Sereda L, Ganguly A, Riggs B, Prockop D . Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1991; 88(12):5423-7. PMC: 51885. DOI: 10.1073/pnas.88.12.5423. View