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1p36 deletion syndrome: an update.

Valerie K Jordan¹, Hitisha P Zaveri², Daryl A Scott³

¹Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.

The Application of Clinical Genetics

|September 9, 2015

Summary

1p36 deletion syndrome, a common condition in newborns, causes varied medical issues. Recent research identifies specific genes on chromosome 1p36 linked to these diverse phenotypes, aiding in understanding the syndrome.

Keywords:

1p36 deletion syndrome chromosome 1p36 chromosome deletion monosomy 1p36

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Area of Science:

Genetics
Human Molecular Genetics
Developmental Biology

Background:

1p36 deletion syndrome is the most common terminal deletion disorder, affecting 1 in 5,000 newborns.
It presents with significant phenotypic variability, including developmental delay, intellectual disability, seizures, and congenital anomalies.
This variability is partly due to genetic heterogeneity within the 1p36 region.

Purpose of the Study:

To review recent advances in mapping genes and genomic regions responsible for 1p36 deletion phenotypes.
To identify specific genes implicated in the diverse clinical manifestations of 1p36 deletion syndrome.

Main Methods:

Review of recent scientific literature on 1p36 deletion syndrome.
Analysis of array-based copy number variant data to identify deleted regions.
Correlation of specific gene deletions with observed phenotypes.

Main Results:

Array-based copy number variant analysis effectively identifies deleted regions on chromosome 1p36.
Several genes, including MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1, are implicated in specific 1p36 deletion phenotypes.
Phenotypic prediction based solely on deletion extent remains challenging due to unidentified genes and potential multi-gene effects.

Conclusions:

Identifying genes within the 1p36 region is crucial for understanding the phenotypic variability of 1p36 deletion syndrome.
Further research is needed to fully elucidate the genotype-phenotype correlations and identify all contributing genes.
Advances in genetic analysis are improving our understanding of this complex chromosomal disorder.