Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion.
BMC Pediatr
; 14: 220, 2014 Sep 02.
Article
em En
| MEDLINE
| ID: mdl-25182979
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades da Pele
/
Transtornos Globais do Desenvolvimento Infantil
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Microftalmia
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Deleção de Genes
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Cromossomos Humanos X
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Doenças Genéticas Ligadas ao Cromossomo X
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adolescent
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Female
/
Humans
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article