A number of Problems And Responses To Olaparib

2"",""term_id"":""169790795"",""term_text"":""NM_139058.2""}}NM_139058.2 (den Dunnen and Antonarakis 2000). The software Mutalyzer 2.0.beta-31 (www.mutalyzer.nl, HGVS nomenclature version 2.0) was used to check nomenclature of variants identified in the Portuguese and Australian cohorts. In addition, ARX-Locus Specific Database, LOVD (http://LOVD.nl/ARX; last accessed on March 2014) (Fokkema et?al. 2011) and Human Gene Mutation Database, HGMD Professional (last accessed on April 2014) databases were crosschecked. Statistical analyses A chi-square (��2) distribution test was performed, with a significance level (P) of 0.05 and a confidence of 95%, to verify differences between each cohort (cohort 1 Australian and cohort 2 Portuguese). Descriptive data are presented as median with interquartile range (IQR). Results Clinical summary selleck chemical of patients referred for diagnostic ARX study Detailed clinical description and screening outcomes for family A to Q is described in Data S1. All 138 patients enrolled selleck inhibitor for ARX study had ID, with 127 (92.0%) being male and 11 (8.0%) female (Table?(Table1).1). Forty-two patients (30.4%) were referred exclusively due to ID. Approximately half of the patients were also affected by a movement disorder or epilepsy (67/138; 48.5%). A smaller proportion of patients presented with behavior abnormalities (17/138; 12%) or with brain malformations, with and without genital malformations (12/138; 8.6%). Interestingly, the cohorts differ in regards to the presence of a movement disorder or epilepsy (P? coding regions in ARX exon 2 and positioned in pA1 (n?=?6) and pA2 (n?=?13) and therefore all variants FKBPL alter the ARX polyalanine content. Examples of partial electropherograms of ARX variants identified are shown in Figure S1. Inheritance was determined in eight male patients (maternal) and one female (paternal). In one male patient, a de novo variant was identified (one of six for which gDNA from the parents was available; 16.7%). Table 1 Clinical data of patients referred for diagnostic ARX study Standardization of nomenclature for the mutations in the polyalanine tracts of ARX Publications were reviewed and ARX variants descriptions were standardized and detailed unambiguously according to recommendations of the HGVS (Table?(Table2).2). The HGVS recommends that duplications be designated by ��dup�� after an indication of the first and last nucleotide(s) duplicated. Moreover, the recommendations state that for all descriptions the most 3�� position possible is arbitrarily assigned to have been changed. This does not concur with what has been previously annotated for these mutations. For example, the most common mutation, c.