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

BMC Pediatrics

Anna Rosi Legrottaglie²  Anna Linda Lamanna²  Giustina Giannella²  Mattia Gentile¹  Francesco Craig²  Annalisa Colonna²  Lucia Margari² 

[1] Department of Medical Genetics, Hospital Di Venere, ASL BARI, Bari, Italy;Child Neuropsychiatry Unit, Department of General Medicine, Neuroscience and Sensory Organs of the “Aldo Moro” University of Bari, Bari, Italy

关键词: Phenotypic variability;    X-inactivation;    Xp deletion;    Autism spectrum disorder;    MLS syndrome;   

Others  :  1138431
DOI  :  10.1186/1471-2431-14-220

 received in 2013-10-15, accepted in 2014-08-04,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Margari et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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