Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report.
J Clin Lab Anal
; 36(6): e24448, 2022 Jun.
Article
en En
| MEDLINE
| ID: mdl-35446994
ABSTRACT
BACKGROUND:
Schwannomatosis is the third subtype of neurofibromatosis. Schwannomatosis, particularly the familial variant, is uncommon. Recently, germline mutations of the SMARCB1 gene have been found to cause schwannomatosis. In this report, we describe a case of familial inherited intraspinal schwannomatosis. Postoperative pathology indicated a schwannoma. The results of gene testing showed that the SMARCB1 gene had a spliced mutation. CASE DESCRIPTION A patient with a rare case of familial intraluminal schwannomatosis was admitted to our hospital. Peripheral blood gene testing was performed on the patient and her son, and a splice mutation of the SMARCB1 gene located at C. 1118+1G>A on intron 8 was identified.CONCLUSIONS:
Schwannomatosis is an incomplete dominant autosomal dominant genetic disorder. The structural and functional abnormalities of proteins caused by mutations in the SMARCB1 gene may be the molecular basis for familial schwannomatosis.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neurofibromatosis
/
Neurilemoma
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
J Clin Lab Anal
Asunto de la revista:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Año:
2022
Tipo del documento:
Article
País de afiliación:
China