CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.

Medicine
Qingyun KangCaishi Liao

Abstract

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.625C > T(p.Gln209∗) and review the clinical features and mutations of CNKSR2 gene for this rare condition considering previous literature. 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. 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. The patient was administrated with a gradual titration of valproic acid (VPA). On administration of valproic acid, he had no further seizures. This is the first time to report a nonsense variant in CNKSR2, c.625C > T(p.Gln209∗), this finding could expand the spectrum of CNKSR2 mutations and might also support the further study of Houge type of X-linked synd...Continue Reading

References

Sep 17, 2014·Annals of Neurology·Andrea K VaagsBerge A Minassian
Mar 11, 2015·American Journal of Medical Genetics. Part a·Umut AyparNicole L Hoppman
Jan 19, 2017·Epilepsia·John A DamianoMichael S Hildebrand
Aug 16, 2019·Molecular Genetics & Genomic Medicine·Daniel L PollaArjan P M de Brouwer
Mar 21, 2020·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Claudia M BonardiGuido Rubboli

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