A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn.
Am J Med Genet A
; 188(2): 658-664, 2022 02.
Article
en En
| MEDLINE
| ID: mdl-34755929
ABSTRACT
Adams-Oliver syndrome (AOS), a rare inherited disorder, is characterized by scalp and terminal limb defects. Several genes associated with Notch pathway mutations have led to AOS. Here, we report a Thai male newborn presenting with aplasia cutis congenita and absence of a right pulmonary artery, which is suggestive of AOS. This was confirmed by the identification of a novel missense mutation in DLL4, a heterozygous one base pair change at nucleotide 82 (c.82G>C, p.Gly28Arg), which is in N-terminal domain. This is the first DLL4-related AOS case with arterial defect.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Dermatosis del Cuero Cabelludo
/
Displasia Ectodérmica
/
Deformidades Congénitas de las Extremidades
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Tailandia