Clinical features and CACNA1A gene mutation in a family with episodic ataxia type 2 / 中南大学学报(医学版)

Episodic ataxia (EA) is a group of disorders characterized by recurrent spells of vertigo, truncal ataxia, and dysarthria. Episodic ataxia type 2 (EA2), the most common subtype of EA, is an autosomal dominant disease caused by mutation of the CACNA1A gene. EA2 has been rarely reported in the Chinese population. Here we present an EA2 family admitted to Xiangya Hospital in October 2018. The proband was a 22-year-old male who complained of recurrent spells of vertigo, slurred speech, and incoordination for 4 years. Brain magnetic resonance imaging (MRI) showed cerebellar atrophy. He had neuropsychological development disorder in childhood, and cognitive assessment in adulthood showed cognitive impairment. The proband's mother and grandmother had a similar history. Peripheral blood samples from the proband and family members were collected, and genomic DNA was isolated. Whole exome sequencing of the proband detected a heterozygous frameshift mutation c.2042_2043del (p.Q681Rfs*100) of CACNA1A gene. This mutation was verified in the proband and 2 family members using Sanger sequencing. One family member carrying this mutation was free of symptoms and signs, suggesting an incomplete penetrance of the mutation. We reported a variant c.2042_2043del of CACNA1A gene as the pathogenic mutation in a Chinese EA2 family for the first time. This case enriched the clinical spectrum of CACNA1A related EA2, and contributed to the understanding of clinical and genetic characteristics of EA2 to reduce misdiagnosis.

Clinical analysis of cytogenetic features in acute myeloid leukemia and its relationship with early responses after induction therapy / 白血病·淋巴瘤

Objective To study the cytogenetic features of acute myeloid leukemia (AML) and analyze the association with cytogenetic features and early responses after induction therapy.Methods The karyotypes of 395 patients who had been newly diagnosed with AML were analyzed.These patients were divided into three groups (low-risk,intermediate-risk and high-risk),according to the AML NCCN guidelines.The incidence of different karyotypes in these three groups and the complete remission (CR) rate after the first cycle of induction therapy were analyzed.Results The incidence rates of karyotypes in high-risk,intermediate-risk and low-risk groups were 50.56 ％ (180/356),39.89 ％ (142/356),9.55 ％ (34/356),respectively.All patients with t(15;17) who completed induction therapy reached CR.There was significant difference in the CR rates of t(8;21) groups with or without additional karyotypes [92.00 ％(23/25) vs 50.00 ％(11/22)] (x2 =10.317,P =0.001).There was no significant difference in the CR rates between normal and-Y karyotype group [61.90 ％ (39/63) vs 58.82 ％ (10/17)] (x2 =0.054,P =0.817).Complex cytogenetics ascribed to the low-risk group,of which monosomal karyotype was common,nine of ten patients with monosomal karyotype were associated with an inferior CR rate.Conclusion The cytogenetic features of AML are different from previous reports by other centers.The cytogenetic features of AML patients not only influence the long-term survival,but also the CR rates of induction therapy.