Limits...
1p36 deletion syndrome: an update.

Jordan VK, Zaveri HP, Scott DA - Appl Clin Genet (2015)

Bottom Line: Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals.In this article, we review recent successes in the effort to map and identify the genes and genomic regions that contribute to specific 1p36-related phenotypes.In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes.

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.

ABSTRACT
Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies. Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths located throughout the 30 Mb of DNA that comprise chromosome 1p36. Array-based copy number variant analysis can easily identify genomic regions of 1p36 that are deleted in an affected individual. However, predicting the phenotype of an individual based solely on the location and extent of their 1p36 deletion remains a challenge since most of the genes that contribute to 1p36-related phenotypes have yet to be identified. In addition, haploinsufficiency of more than one gene may contribute to some phenotypes. In this article, we review recent successes in the effort to map and identify the genes and genomic regions that contribute to specific 1p36-related phenotypes. In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes.

No MeSH data available.


Related in: MedlinePlus

Critical regions and selected genes on chromosome 1p36.Notes: Chromosome 1p36 spans approximately 30 Mb. Red bars represent the approximate locations of the distal and proximal critical regions. Orange bars represent the approximate locations of critical regions defined for various 1p36-related phenotypes. Green bars represent the approximate locations of selected genes whose haploinsufficiency is likely to contribute to phenotypes associated with 1p36 deletions. Coordinates are based on human genome build GRCh37/hg19.
© Copyright Policy
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4555966&req=5

f3-tacg-8-189: Critical regions and selected genes on chromosome 1p36.Notes: Chromosome 1p36 spans approximately 30 Mb. Red bars represent the approximate locations of the distal and proximal critical regions. Orange bars represent the approximate locations of critical regions defined for various 1p36-related phenotypes. Green bars represent the approximate locations of selected genes whose haploinsufficiency is likely to contribute to phenotypes associated with 1p36 deletions. Coordinates are based on human genome build GRCh37/hg19.

Mentions: After the characteristic features of 1p36 deletion syndrome were described, efforts were made to determine the smallest terminal deletion that was required to cause individual 1p36 phenotypes. In a study of 30 individuals with 1p36 deletions, Wu et al11 determined that most genes contributing to the phenotypic features of 1p36 deletion syndrome were located distal to marker D1S2870 (chr1:6,289,764–6,289,973). This region was subsequently referred to as the distal or classical critical region (Figure 3).


1p36 deletion syndrome: an update.

Jordan VK, Zaveri HP, Scott DA - Appl Clin Genet (2015)

Critical regions and selected genes on chromosome 1p36.Notes: Chromosome 1p36 spans approximately 30 Mb. Red bars represent the approximate locations of the distal and proximal critical regions. Orange bars represent the approximate locations of critical regions defined for various 1p36-related phenotypes. Green bars represent the approximate locations of selected genes whose haploinsufficiency is likely to contribute to phenotypes associated with 1p36 deletions. Coordinates are based on human genome build GRCh37/hg19.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4555966&req=5

f3-tacg-8-189: Critical regions and selected genes on chromosome 1p36.Notes: Chromosome 1p36 spans approximately 30 Mb. Red bars represent the approximate locations of the distal and proximal critical regions. Orange bars represent the approximate locations of critical regions defined for various 1p36-related phenotypes. Green bars represent the approximate locations of selected genes whose haploinsufficiency is likely to contribute to phenotypes associated with 1p36 deletions. Coordinates are based on human genome build GRCh37/hg19.
Mentions: After the characteristic features of 1p36 deletion syndrome were described, efforts were made to determine the smallest terminal deletion that was required to cause individual 1p36 phenotypes. In a study of 30 individuals with 1p36 deletions, Wu et al11 determined that most genes contributing to the phenotypic features of 1p36 deletion syndrome were located distal to marker D1S2870 (chr1:6,289,764–6,289,973). This region was subsequently referred to as the distal or classical critical region (Figure 3).

Bottom Line: Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals.In this article, we review recent successes in the effort to map and identify the genes and genomic regions that contribute to specific 1p36-related phenotypes.In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes.

View Article: PubMed Central - PubMed

Affiliation: Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.

ABSTRACT
Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, and renal anomalies. Although 1p36 deletion syndrome is considered clinically recognizable, there is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths located throughout the 30 Mb of DNA that comprise chromosome 1p36. Array-based copy number variant analysis can easily identify genomic regions of 1p36 that are deleted in an affected individual. However, predicting the phenotype of an individual based solely on the location and extent of their 1p36 deletion remains a challenge since most of the genes that contribute to 1p36-related phenotypes have yet to be identified. In addition, haploinsufficiency of more than one gene may contribute to some phenotypes. In this article, we review recent successes in the effort to map and identify the genes and genomic regions that contribute to specific 1p36-related phenotypes. In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes.

No MeSH data available.


Related in: MedlinePlus