Compound heterozygote mutations inSPG7in a family with adult-onset primary lateral sclerosis
نویسندگان
چکیده
منابع مشابه
Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.
OBJECTIVE To identify the genetic defect for adult-onset primary lateral sclerosis (PLS) in a family with 5 patients. METHODS Whole-exome sequencing was performed to identify the shared genetic variants in 3 affected members in a PLS family with 5 affected individuals. Sanger sequencing was used for validation of the variants and for cosegregation analysis. Mitochondrial activity for both pat...
متن کاملCompound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma
PURPOSE To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations. METHODS Family members of the proband underwent comprehensive ocular clinical examination and DNA sequencing for MYOC mutations. RESULTS A 34-year-old woman with marked ocular hypertension was foun...
متن کاملReply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations
Sir, The current report by Carelli and colleagues is a timely contribution the literature on autosomal dominant optic atrophy (DOA) (Carelli et al., 2014). Similar to a recently published Letter to the Editor in Brain by Bonneau et al. (2014), they describe the intriguing association of a Behr-like phenotype in an Italian family harbouring presumed compound heterozygous OPA1 mutations. The majo...
متن کاملLETTER TOTHE EDITOR ‘Behr syndrome’ with OPA1 compound heterozygote mutations
1 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy 2 Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy 3 Institute of Neurology, Catholic University, Rome, Italy 4 Laboratory of Molecular Medicine, Research Children’s Hospital ‘Bambino Gesù’, Rome, Italy 5 Molecular Genetics Laboratory, Institu...
متن کاملEarly onset of Friedreich's ataxia in a compound heterozygote.
Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. We describe an unusual form of "pseudodominant" inheritance to illustrate how a diagnosis of FA in a parent does not preclude the diagnosis in the child.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2016
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000060