Familial Translocations Involving 15q11-q13 Can Give Rise to Interstitial Deletions Causing Prader-Willi or Angelman Syndrome

Overview

Journal J Med Genet

Specialty Genetics

Date 1996 Oct 1

PMID 8933339

Citations 9

Authors

B Horsthemke

A Maat-Kievit

E Sleegers

A van den Ouweland

K Buiting

C Lich

P Mollevanger

G Beverstock

G Gillessen-Kaesbach

G Schwanitz

Affiliations

Soon will be listed here.

Abstract

A de novo interstitial deletion of 15q11-q13 is the major cause of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Here we describe two unrelated PWS patients with a typical deletion, whose fathers have a balanced translocation involving the PWS/AS region. Microsatellite data suggest that the deletion is the result of an unequal crossover between the derivative chromosome 15 and the normal chromosome 15. We conclude that familial translocations involving 15q11-q13 can give rise to interstitial deletions causing PWS or AS and that prenatal diagnosis in such families should include fluorescence in situ hybridisation or microsatellite studies or both.

Citing Articles

Using as potential markers for Prader-Willi syndrome diagnosis.

Sun J, Yang L, Dai Y, Wu H, Li S, Xu Y RNA Biol. 2023; 20(1):419-430.

PMID: 37405372 PMC: 10324448. DOI: 10.1080/15476286.2023.2230406.

Molecular and behavioral consequences of Ube3a gene overdosage in mice.

Punt A, Judson M, Sidorov M, Williams B, Johnson N, Belder S JCI Insight. 2022; 7(18).

PMID: 36134658 PMC: 9675564. DOI: 10.1172/jci.insight.158953.

Early start of growth hormone is associated with positive effects on auxology and metabolism in Prader-Willi-syndrome.

Magill L, Laemmer C, Woelfle J, Fimmers R, Gohlke B Orphanet J Rare Dis. 2020; 15(1):283.

PMID: 33046090 PMC: 7552493. DOI: 10.1186/s13023-020-01527-0.

Angelman syndrome and melatonin: What can they teach us about sleep regulation.

Buonfiglio D, Hummer D, Armstrong A, Christopher Ehlen J, DeBruyne J J Pineal Res. 2020; 69(4):e12697.

PMID: 32976638 PMC: 7577950. DOI: 10.1111/jpi.12697.

Angelman syndrome - insights into a rare neurogenetic disorder.

Buiting K, Williams C, Horsthemke B Nat Rev Neurol. 2016; 12(10):584-93.

PMID: 27615419 DOI: 10.1038/nrneurol.2016.133.

References

Hamabe J, Niikawa N . StyI polymorphism at the D15S11 locus. Nucleic Acids Res. 1990; 18(18):5579. PMC: 332272. DOI: 10.1093/nar/18.18.5579. View

Ledbetter D, Engel E . Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet. 1995; 4 Spec No:1757-64. DOI: 10.1093/hmg/4.suppl_1.1757. View

Hulten M, Armstrong S, Challinor P, Gould C, Hardy G, Leedham P . Genomic imprinting in an Angelman and Prader-Willi translocation family. Lancet. 1991; 338(8767):638-9. DOI: 10.1016/0140-6736(91)90652-6. View

Smeets D, Hamel B, Nelen M, Smeets H, Bollen J, SMITS A . Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med. 1992; 326(12):807-11. DOI: 10.1056/NEJM199203193261206. View

Buiting K, Greger V, Brownstein B, Mohr R, Voiculescu I, Winterpacht A . A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. Proc Natl Acad Sci U S A. 1992; 89(12):5457-61. PMC: 49311. DOI: 10.1073/pnas.89.12.5457. View

Dittrich B, Robinson W, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G . Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet. 1992; 90(3):313-5. DOI: 10.1007/BF00220089. View

Holm V, Cassidy S, Butler M, Hanchett J, Greenswag L, Whitman B . Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993; 91(2):398-402. PMC: 6714046. View

Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S . Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet. 1992; 1(6):417-25. DOI: 10.1093/hmg/1.6.417. View

Mutirangura A, GREENBERG F, Butler M, Malcolm S, Nicholls R, Chakravarti A . Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet. 1993; 2(2):143-51. PMC: 6739235. DOI: 10.1093/hmg/2.2.143. View

10.

Nicholls R . Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes. Curr Opin Genet Dev. 1993; 3(3):445-56. DOI: 10.1016/0959-437x(93)90119-a. View

11.

Dittrich B, Buiting K, Gross S, Horsthemke B . Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet. 1993; 2(12):1995-9. DOI: 10.1093/hmg/2.12.1995. View

12.

Beckmann J, Tomfohrde J, Barnes R, Williams M, Broux O, Richard I . A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites. Hum Mol Genet. 1993; 2(12):2019-30. DOI: 10.1093/hmg/2.12.2019. View

13.

Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P . The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994; 7(2 Spec No):246-339. DOI: 10.1038/ng0694supp-246. View

14.

Christian S, Robinson W, Huang B, Mutirangura A, Line M, Nakao M . Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet. 1995; 57(1):40-8. PMC: 1801233. View

15.

Polymeropoulos M, Xiao H, Rath D, Merril C . Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19). Nucleic Acids Res. 1991; 19(1):195. PMC: 333565. DOI: 10.1093/nar/19.1.195. View