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Open Access 01-12-2014 | Case report

Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion

Authors: Lucia Margari, Annalisa Colonna, Francesco Craig, Mattia Gentile, Giustina Giannella, Anna Linda Lamanna, Anna Rosi Legrottaglie

Published in: BMC Pediatrics | Issue 1/2014

Abstract

Background

Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra- and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located.

Case presentation

We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes.

Conclusion

Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2431/14/220/prepub

Title: Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion
Authors: Lucia Margari
Annalisa Colonna
Francesco Craig
Mattia Gentile
Giustina Giannella
Anna Linda Lamanna
Anna Rosi Legrottaglie
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: BMC Pediatrics / Issue 1/2014
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/1471-2431-14-220

At a glance: The STEP trials

Springer Medicine

Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion

Abstract

Background

Case presentation

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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