Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.
Mol Genet Genomic Med
; 8(6): e1086, 2020 06.
Article
en En
| MEDLINE
| ID: mdl-32277595
BACKGROUND: There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of 20p11.2 deletions with Alagille syndrome, while there are others that include phenotypes such as panhypopituitarism, craniofacial dysmorphism, polysplenia, autism, and Hirschsprung disease. METHODS: Molecular karyotyping, cytogenetics, and DNA sequencing were undertaken in a child to study the genetic basis of a complex phenotype consisting of craniofacial dysmorphism, ocular abnormalities, ectopic inguinal testes, polysplenia, growth hormone deficiency, central hypothyroidism, and gastrointestinal system anomalies. RESULTS: We report the smallest described de novo proximal 20p11.2 deletion, which deletes only the FOXA2 leading to the above complex phenotype. CONCLUSIONS: Haploinsufficiency of the FOXA2 only gene is associated with a multisystem disorder.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Trastorno Autístico
/
Anomalías Múltiples
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Factor Nuclear 3-beta del Hepatocito
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Haploinsuficiencia
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Hipotiroidismo
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Child
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Humans
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Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2020
Tipo del documento:
Article
País de afiliación:
Qatar
Pais de publicación:
Estados Unidos