A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.
Hum Genome Var
; 8(1): 16, 2021 May 06.
Article
in En
| MEDLINE
| ID: mdl-33958584
ABSTRACT
A recurrent ZSWIM6 variant, NM_020928.2c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations. In this patient, distinctive facial features gradually became apparent with age, and severe vomiting caused by gastroesophageal reflux continued even after percutaneous endoscopic gastrostomy.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Hum Genome Var
Year:
2021
Document type:
Article
Affiliation country:
Japan