The Experts below are selected from a list of 99 Experts worldwide ranked by ideXlab platform
Xiaoli Kang - One of the best experts on this subject based on the ideXlab platform.
-
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
BMC medical genetics, 2019Co-Authors: Junjue Chen, Yan Wei, Linlu Tian, Xiaoli KangAbstract:Infantile nystagmus (IN) is an Oculomotor Disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus. We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-linked IN and 100 normal controls. Mutations in FRMD7 were identified by sequencing PCR products. We found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncation of the protein. This study reported a novel mutation of the FRMD7 gene occurred in a Chinese family with IN, thus expanding the spectrum of FRMD7 mutations causing IN, and further confirming that the mutations of FRMD7 are the underlying molecular cause of IN.
-
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
BMC, 2019Co-Authors: Junjue Chen, Yan Wei, Linlu Tian, Xiaoli KangAbstract:Abstract Background Infantile nystagmus (IN) is an Oculomotor Disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus. Methods We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-linked IN and 100 normal controls. Mutations in FRMD7 were identified by sequencing PCR products. Results We found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncation of the protein. Conclusions This study reported a novel mutation of the FRMD7 gene occurred in a Chinese family with IN, thus expanding the spectrum of FRMD7 mutations causing IN, and further confirming that the mutations of FRMD7 are the underlying molecular cause of IN
Junjue Chen - One of the best experts on this subject based on the ideXlab platform.
-
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
BMC medical genetics, 2019Co-Authors: Junjue Chen, Yan Wei, Linlu Tian, Xiaoli KangAbstract:Infantile nystagmus (IN) is an Oculomotor Disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus. We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-linked IN and 100 normal controls. Mutations in FRMD7 were identified by sequencing PCR products. We found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncation of the protein. This study reported a novel mutation of the FRMD7 gene occurred in a Chinese family with IN, thus expanding the spectrum of FRMD7 mutations causing IN, and further confirming that the mutations of FRMD7 are the underlying molecular cause of IN.
-
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
BMC, 2019Co-Authors: Junjue Chen, Yan Wei, Linlu Tian, Xiaoli KangAbstract:Abstract Background Infantile nystagmus (IN) is an Oculomotor Disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus. Methods We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-linked IN and 100 normal controls. Mutations in FRMD7 were identified by sequencing PCR products. Results We found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncation of the protein. Conclusions This study reported a novel mutation of the FRMD7 gene occurred in a Chinese family with IN, thus expanding the spectrum of FRMD7 mutations causing IN, and further confirming that the mutations of FRMD7 are the underlying molecular cause of IN
Linlu Tian - One of the best experts on this subject based on the ideXlab platform.
-
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
BMC medical genetics, 2019Co-Authors: Junjue Chen, Yan Wei, Linlu Tian, Xiaoli KangAbstract:Infantile nystagmus (IN) is an Oculomotor Disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus. We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-linked IN and 100 normal controls. Mutations in FRMD7 were identified by sequencing PCR products. We found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncation of the protein. This study reported a novel mutation of the FRMD7 gene occurred in a Chinese family with IN, thus expanding the spectrum of FRMD7 mutations causing IN, and further confirming that the mutations of FRMD7 are the underlying molecular cause of IN.
-
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
BMC, 2019Co-Authors: Junjue Chen, Yan Wei, Linlu Tian, Xiaoli KangAbstract:Abstract Background Infantile nystagmus (IN) is an Oculomotor Disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus. Methods We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-linked IN and 100 normal controls. Mutations in FRMD7 were identified by sequencing PCR products. Results We found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncation of the protein. Conclusions This study reported a novel mutation of the FRMD7 gene occurred in a Chinese family with IN, thus expanding the spectrum of FRMD7 mutations causing IN, and further confirming that the mutations of FRMD7 are the underlying molecular cause of IN
Yan Wei - One of the best experts on this subject based on the ideXlab platform.
-
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
BMC medical genetics, 2019Co-Authors: Junjue Chen, Yan Wei, Linlu Tian, Xiaoli KangAbstract:Infantile nystagmus (IN) is an Oculomotor Disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus. We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-linked IN and 100 normal controls. Mutations in FRMD7 were identified by sequencing PCR products. We found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncation of the protein. This study reported a novel mutation of the FRMD7 gene occurred in a Chinese family with IN, thus expanding the spectrum of FRMD7 mutations causing IN, and further confirming that the mutations of FRMD7 are the underlying molecular cause of IN.
-
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
BMC, 2019Co-Authors: Junjue Chen, Yan Wei, Linlu Tian, Xiaoli KangAbstract:Abstract Background Infantile nystagmus (IN) is an Oculomotor Disorder that is characterized by conjugate involuntary, rapid and repetitive movement of the eyes. To date, the pathogenesis of IN remains unclear. Many patients show an X-linked inheritance pattern. In this study, we explored the mutation in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked infantile nystagmus. Methods We conducted comprehensive ocular examinations and collected 5 ml of blood samples from members of a family with X-linked IN and 100 normal controls. Mutations in FRMD7 were identified by sequencing PCR products. Results We found a 7-bp deletion(c.823-829delACCCTAC) in the 9th exon of FRMD7 in a Chinese family with IN, which predicted a truncation of the protein. Conclusions This study reported a novel mutation of the FRMD7 gene occurred in a Chinese family with IN, thus expanding the spectrum of FRMD7 mutations causing IN, and further confirming that the mutations of FRMD7 are the underlying molecular cause of IN
Jinfu Yin - One of the best experts on this subject based on the ideXlab platform.
-
novel mutations of the frmd7 gene in x linked congenital motor nystagmus
Molecular Vision, 2007Co-Authors: Baorong Zhang, Zhirong Liu, Guohua Zhao, Xin Xie, Xinzhen Yin, Fei Song, Jun Tian, Wei Luo, Meiping Ding, Jinfu YinAbstract:PURPOSE: Congenital motor nystagmus (CMN) is a relatively common Oculomotor Disorder characterized by bilateral uncontrollable ocular oscillations. Recently, the FRMD7 gene mutation has been identified as the genetic cause of CMN. The purpose of this study was to identify mutations of the FRMD7 gene in Chinese patients with CMN. METHODS: Clinical data and genomic DNA of three Chinese CMN families were collected after informed consent. Genescan by two-point linkage analysis combined with haplotype analysis was performed and mutation screening of the FRMD7 gene was conducted by direct sequencing. RESULTS: Maximum two-point LOD scores of 2.00, 1.76, and 1.16 at theta=0.00 were obtained with markers in proximity to the FRMD7 gene on chromosome Xp26 in the three CMN families. Mutation screening in the FRMD7 gene identified two novel missense mutations (c.781C>G and c.886G>C) and one reported nonsense mutation (c.1003C>T). These nucleotide alterations were not seen in unaffected members of the families or in 100 unrelated control subjects. CONCLUSIONS: This study widens the mutation spectrum of the FRMD7 gene.
