SLDB

Speech/Language Disorders Database

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Gene / phenotype associations for SRPX2

  • Click column headers to sort. Click to expand any row to see more details about the particular assertion of an association between variants of SRPX2 and a particular phenotypic variable.
  • Click the Pubmed IDs in the last column to link out to the primary research article. Click the links in the last column to download the full Genotype-Phenotype record as JSON or XML formatted text.
Entrez Id Symbol Location Disorder Brief Phenotype Reference Year Download
27286 SRPX2 Xq21.33-Xq23 Oral and speech dyspraxia with Rolandic seizures Roll et al 2006 JSON | XML

Additional Phenotype Details: Variable degree of mental retardation in family members

Basic Study Type:  - Linkage study - Mutation analysis

Study Cohort: 
"We investigated a French family (Fig. 1) that had Rolandic seizures (RS) with oral and speech dyspraxia (OSD) and a variable degree of mental retardation (MR), similar to ADRESD, although the disorder did not follow autosomal inheritance."

"Two patients from the French family (Fig. 1), a 10-year-old girl (III.3) and her half-brother aged 4 (III.4), were referred to the Neurology Department at Strasbourg University Hospital. They both had a history of epileptic seizures with speech impairment."

"In addition to this French family, other patients with related disorders were also collected. The phenotypes included sporadic or familial RE (81 unrelated patients), the syndrome of continuous spike and wave during slow sleep (CSWS; nine unrelated patients), typical acquired epileptiform aphasia (Landau-Kleffner syndrome; MIM 245570) or related epilepsy–aphasia syndromes (17 unrelated patients), unilateral (three unrelated patients) or BPP [a first series of 12 unrelated patients, including patient T2472-1, and a second series of 14 unrelated patients, including one patient with LKS and BPP (46)], speech impairment with or without epilepsy (four unrelated families) and a heterogeneous group of 42 patients with various types of complex, developmental (schizencephaly, lissencephaly, microcephaly, etc.) and/or cognitive disorders."

Genotyping Methods: 
"High-molecular-weight genomic DNA was isolated from whole blood using the Nucleonw kit (Amersham Biosciences). Highly polymorphic microsatellite markers were analyzed by PCR amplification of 20–40 ng of genomic DNA in 10–50 ml reactions with 50–335 nM of each primer, 1–3 mM MgCl2, 200–250 mM each nucleotide and 0.4–0.5 U of Taq Polymerase (AmpliTaq GoldTM). Forward primers were labeled at the 50 terminus with a fluorescent dye (Fam-Tet/Ned-Hex or D2-D3-D4, depending on the sequencer). Fluorescent PCR products were analyzed either on a MegaBACETM 1000 Sequencer (Amersham Biosciences) or on a CEQ-8000TM Sequencer (Beckman Coulter), using the appropriate softwares."

"The whole coding sequences of the known genes and transcripts analyzed within the region of interest were screened for mutations by direct sequencing of each exon and the surrounding intronic sequences, using DNA from patient III.1. Both strands of each corresponding PCR product were sequenced with an ABI3700 DNA AnalyzerTM (Applied Biosystems) or with a CEQ-8000TM Sequencer (Beckman Coulter)."

Analysis Methods: 
"Linkage analyses were performed under the assumption of an autosomal or X-linked dominant mode of inheritance with penetrance at 1.0, frequency of the disease at 0.0001, phenocopy rate at 0 and equal allele fre- quencies, by the use of MLINK in the LINKAGE computer package (Lathrop et al., 1984)."

"Sequencing data were analyzed with the Genalys 3.0 software."

Associated Markers:
N327S 
Y72S   - Mutation found in male with Rolandic seizures and bilateral perisylvian polymicrogyria


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