CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.
Medicine (Baltimore)
; 100(23): e26093, 2021 Jun 11.
Article
em En
| MEDLINE
| ID: mdl-34114993
ABSTRACT
RATIONALE Mutations of connector enhancer of kinase suppressor of Ras-2 (CNKSR2) gene were identified as the cause of Houge type of X-linked syndromic mental retardation. The mutations of CNKSR2 gene are rare, we reporta patient carrying a novel nonsense mutation of CNKSR2,c.625Câ>âT(p.Gln209∗) and review the clinical features and mutations of CNKSR2 gene for this rare condition considering previous literature. PATIENT CONCERNS We report a case of a 7-year and 5-month-old Chinese patient with clinical symptoms of intellectual disability, language defect, epilepsy and hyperactivity. Genetic study revealed a novel nonsense variant of CNKSR2, which has not been reported yet. DIAGNOSIS According to clinical manifestations, genetic pattern and ACMG classification of mutation site as Class 1-cause disease, the patient was diagnosed as Houge type of X-linked syndromic mental retardation caused by CNKSR2 gene mutation. INTERVENTIONS:
The patient was administrated with a gradual titration of valproic acid (VPA).OUTCOMES:
On administration of valproic acid, he had no further seizures. LESSONS This is the first time to report a nonsense variant in CNKSR2, c.625Câ>âT(p.Gln209∗), this finding could expand the spectrum of CNKSR2 mutations and might also support the further study of Houge type of X-linked syndromic mental retardation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Agitação Psicomotora
/
Ácido Valproico
/
Deficiência Intelectual Ligada ao Cromossomo X
/
Proteínas Adaptadoras de Transdução de Sinal
/
Epilepsia
/
Transtornos da Linguagem
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article