Physical mapping of the holoprosencephaly critical region on chromosome 7q36

Gurrieri, Fiorella; Bj, Trask; G, van den Engh; Cm, Krauss; Schinzel, Albert; Mj, Pettenati; Schindler, Detlev; Dietz-Band, Jeanne; Vergnaud, Gilles; Scherer, Stephen W.

doi:10.1038/ng0393-247

Cited by 84 publications

(44 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The 14.5-Mb duplicated portion contains 480 genes, the 50-kb deletion none. Subtelomeric 7q36 deletions 16 are associated with, among other pathological phenotypes, holoprosencephaly 17 and Currarino syndrome, 18 while duplications are rare. Novales et al 19 concluded that patients with duplications covering 7q32-4qter show only mild features including low birth weight, retardation of development, low-set years, small nose, skeletal anomalies, kyphoscoliosis and muscular hypotonia.…”

Section: Discussionmentioning

confidence: 99%

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements

2012

View full text Add to dashboard Cite

Submicroscopic structural variations, including deletions, duplications, inversions and more complex rearrangements, are widespread in normal human genomes. Inverted segmental duplications or highly identical low-copy repeat (LCR) sequences can mediate the formation of inversions and more complex structural rearrangements through non-allelic homologous recombination. In a patient with 7q36 inverted duplication/terminal deletion, we demonstrated the central role of a pair of short inverted LCRs in the vasoactive intestinal peptide receptor gene (VIPR2)-LCRs in generating the rearrangement. We also revealed a relatively common VIPR2-LCR-associated inversion polymorphism disrupting the gene in almost 1% of healthy subjects, and a small number of complex duplications/triplications. In genome-wide studies of several thousand patients, a significant association of rare microduplications with variable size, all involving VIPR2, with schizophrenia was recently described, suggesting that altered vasoactive intestinal peptide signaling is likely implicated in the pathogenesis of schizophrenia. Genetic testing for VIPR2-LCR-associated inversions should be performed on available cohorts of psychiatric patients to evaluate their potential pathogenic role.

show abstract

Section: Discussionmentioning

confidence: 99%

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements

2012

View full text Add to dashboard Cite

show abstract

“…However, EN-l and GBX-2 are located on the same chromosome but not closely linked to each other. One of the genes, in which a mutation causes defects of the development of brain and face, holoprosencephaly, has been mapped to human chromosome 7q36 [31].…”

Section: Discussionmentioning

confidence: 99%

The HOX complex neighbored by the EVX gene, as well as two other homeobox‐containing genes, the GBX‐class and the EN‐class, are located on the same chromosomes 2 and 7 in humans

et al. 1993

View full text Add to dashboard Cite

The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans Received 5 October 1993Two newly identified human homeobox-containing genes, GBXI and GBX2, are closely related genes, as are members of the other homeobox genes, EN-I and EN-2. GBXI and EN-2 have been mapped to chromosome 7q36. The present study shows that GBX2 was mapped to chromosome 2q37. EN-I was mapped to chromosome 2q14. Moreover, two HOX complexes neighbored by the EVX gene, HOXA and HOXD, are located at chromosome 7p15-p14 and 2q31-q37, respectively. Thus, it is possible that these homeobox genes were linked to each other on an ancestral genome and that the ancestral chromosome segment was duplicated during evolution.

show abstract

“…The initial chromosome analyses of the second stillborn baby and of the couple failed to find any chromosome abnormalities. As one of the causes of holoprosencephaly was 7q deletion (Gurrieri et al 1993), special attention was focused on the chromosome 7 pairs of the couple by high-resolution G banding. Finally, we found that the father had a subtle balanced translocation between 7q and 13q (46,XY,t(7;13)(q36.2;q34) ( Fig.…”

Section: Case Descriptionsmentioning

confidence: 99%

Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies

et al. 1999

View full text Add to dashboard Cite

Physical mapping of the holoprosencephaly critical region on chromosome 7q36

Cited by 84 publications

References 29 publications

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements

The HOX complex neighbored by the EVX gene, as well as two other homeobox‐containing genes, the GBX‐class and the EN‐class, are located on the same chromosomes 2 and 7 in humans

Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies

Contact Info

Product

Resources

About