ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
J Hum Genet
; 65(12): 1129-1134, 2020 Dec.
Article
en En
| MEDLINE
| ID: mdl-32655146
ABSTRACT
Congenital disorders of glycosylation (CDG) are a group of genetic, mostly multisystem disorders, which often involve the central nervous system. ALG3-CDG is one the some 130 known CDG. Here we report two siblings with a severe phenotype and intrauterine death. Whole-exome sequencing revealed two novel variants in ALG3 NM_005787.6c.512G>T (p.Arg171Leu) inherited from the mother and NM_005787.6c.511C>T (p.Arg171Trp) inherited from the father.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Sistema Nervioso Central
/
Trastornos Congénitos de Glicosilación
/
Genes Letales
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Manosiltransferasas
Límite:
Female
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Humans
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Male
Idioma:
En
Revista:
J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
China