Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
Am J Med Genet A
; 182(7): 1785-1790, 2020 07.
Article
em En
| MEDLINE
| ID: mdl-32324310
Basel-Vanagaite-Smirin-Yosef syndrome is a recently described autosomal recessive intellectual disability syndrome caused by variants in the MED25 gene. While it was originally identified in Brazil, it was further described in Israel by authors who are now the namesake of the condition. A 2018 publication further contributed to its delineation, but the patient's phenotype was complicated by a dual diagnosis. More recently, an article describing a set of affected siblings was published. We describe three, previously unreported, patients showing clinical variability for this newly defined syndrome. The major features determined by "reverse phenotyping" include significant to profound developmental delays/intellectual disability with absent or delayed speech, epilepsy, ocular abnormalities, cleft lip and/or palate, congenital heart disease, urogenital anomalies, skeletal abnormalities, brain malformations and/or microcephaly, failure to thrive, and dysmorphic features. The authors suggest the delineation of an acronym using the gene name and common features seen across the majority of patients reported so far. This new nomination, MED-DOCS, may help clinicians to recognize, suspect, and remember this novel syndrome.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Predisposição Genética para Doença
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Complexo Mediador
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
País/Região como assunto:
America do sul
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Asia
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Brasil
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article