Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion
| Autor: | Lucia Margari, Francesco Craig, Anna Linda Lamanna, Mattia Gentile, Giustina Giannella, Annalisa Colonna, Anna Rosi Legrottaglie |
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| Jazyk: | angličtina |
| Předmět: |
Pathology
medicine.medical_specialty Monosomy Adolescent Case Report Microphthalmia X-inactivation Phenotypic variability medicine Humans Microphthalmos Pediatrics Perinatology and Child Health Autism spectrum disorder Chromosomes Human X business.industry Genetic Diseases X-Linked HCCS medicine.disease Phenotype MLS syndrome Developmental disorder Xp deletion Child Development Disorders Pervasive Pediatrics Perinatology and Child Health Skin Abnormalities Autism Female business Gene Deletion |
| Zdroj: | BMC Pediatrics |
| ISSN: | 1471-2431 |
| DOI: | 10.1186/1471-2431-14-220 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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