HGM 2011 - Dubai, UAE

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A. Nurten Akarsu

Title: Molecular Analysis of the Rarest of the Rare: Autosomal Recessive ALX-Related Frontonasal Dysplasias

Homozygositymapping within consanguineous families is a powerful method of localising genes for autosomal recessive disease. It has a higher advantage over classical linkage approach to identify genes in fewer numbers of families and even in single cases per family. Therefore, it is important to create special registries and sample collections to study inbred and endogamous populations. Newly recognised ALX-Related Frontonasal Dysplasia (FND) phenotypes provide ideal examples to demonstrate how SNP array technology and homozygosity information could efficiently be used to identify genetic causes of rare disorders.

Frontonasal dysplasia is an outcome of developmental failure of the facial prominences. Facial findings range from mild hypertelorism to severe midline clefts. Genetic aspects of FND are not well defined. Recently, we and others demonstrated that homozygous mutations in Aristaless-like homobox genes (ALX1, ALX3 and ALX4) cause distinctive FND phenotypes in human (Am. J. Hum. Genet. 2010, 86:78; Hum. Mol. Genet. 2009, 18:4357; Am. J. Hum. Genet. 2009, 84: 698). According to these findings, ALX1expression is essential not only for building the oral and nasal cavities, but also for proper eye development during early embryogenesis. Complete loss of function cannot be compensated for, and frontonasal and palatal development is likely to be disrupted in early stages of development. ALX4 and ALX3 expression are related more to regulating the formation of the final shape of the nose.

Sheikh Hamdan Bin Rashid Al Maktoum
Award for Medical Science

Human Genome Organisation

Centre for Arab Genomic Studies