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Molecular basis of the Ablepharon macrostomia syndrome

Abstract

The genomic approach for rare diseases studies has been widely used, mainly due to the emergence of new generation sequencing, which has a high power to discriminate the nucleotide sequences with large coverage in a short period of time. The whole exoma sequencing, associated with the new sequencing platforms, allows the analysis of functional regions of the human genome with unprecedented efficiency. Ablepharon-Macrostomia Syndrome (AMS) is a rare condition, the patients presents remarkable clinical features as absent or hypoplastic eyelids, absent eyebrows and eyelashes, macrostomia caused by fusion defects of the mouth with unfused lateral commissures, and other anomalies. The syndrome inheritance pattern is not elucidated, though the autosomal dominant inheritance with variable expressivity has been suggested, but the recessive inheritance has not been ruled out. The phenotype overlaps with other two syndromes: Barber-Say syndrome (BSS) e Fraser Syndrome(FS), but only FS has genes related to disease development, however recent evidences shows that genes known to cause this syndrome is not responsible for AMS, thus no gene is associated with the syndrome. Therefore the objective of the present study is to determine the molecular basis of disease, by detecting genomic variants responsible for phenotypic syndrome, using the whole exome sequencing. It is expected that these findings may determine the genetic basis of the syndrome, facilitate molecular diagnosis, assist in genetic counseling, elucidate the phenotypic variability intra-familial and possibly highlight genes involved in the normal development of the affected tissues. (AU)

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