ALX1 gene

• Overview
• Microphthalmia, anophthalmia, coloboma (MAC)
• References

Overview

Gene (OMIM No.)	ALX1 (#601527)
Function of gene/protein	Protein: Aristaless-like homeobox 1 Regulates other genes by binding to specific DNA regions (transcription factor) Controls cell growth, division and movement during early development Important for early development of the head and face, particularly the eyes, nose and mouth
Clinical phenotype (OMIM phenotype no.)	Frontonasal dysplasia 3 (#613456)
Inheritance	Autosomal recessive
Ocular features	Microphthalmia, anophthalmia, coloboma (MAC) spectrum Hypertelorism Eyelid coloboma Sparse eyelashes and absent or mishapen eyebrows Blepharophimosis
Systemic features	Craniofacial clefting (cleft palate, cleft lip, cranial cleft) Dysmorphic facial features (prominent glabella, broad nasal bridge with hypoplasia of the ala nasi, low-set posteriorly rotated ears, smooth philtrum, mouth protrusion accompanied by teeth protrusion, brachycephaly) Brain defects (delayed myelinisation, thin corpus callosum and asymmetric cerebellar vermis configuration) Caudal appendage in the sacral region Learning difficulties
Key investigations	B-scan USS to measure axial length to document microphthalmia Electrophysiology MRI brain and orbit Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	Medline Plus

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References

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