The Invitae Renpenning Syndrome Test analyzes the PQBP1 gene that is associated with Renpenning syndrome. Renpenning syndrome is characterized by intellectual disability, microcephaly, short stature, and dysmorphic facial features.
Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
Renpenning syndrome is a rare variable condition characterized by intellectual disability, microcephaly, short stature and dysmorphic facial features including a long triangular face, upslanting or downslanting palpebral fissures, long prominent nose, large or dysplastic protruding ears, sparse eyebrows and hair. Other reported features include failure to thrive, growth restriction, extrapyramidal features, spasticity, seizures and muscular atrophy. Major malformations occur occasionally, including cardiac defects, cleft palate, and genital and anal anomalies.
PQBP1 is the only gene known to be associated with Renpenning syndrome. All of the individuals reported to date have been found to have a pathogenic variant in PQBP1. The percentage of individuals with X-linked intellectual disability who have a pathogenic change in PQBP1 has not been well-established.
Renpenning syndrome is inherited in an X-linked recessive manner.
Renpenning syndrome is highly penetrant with clinical variability. Carrier females are generally unaffected, although they may exhibit very mild symptoms.
The prevalence of Renpenning syndrome is not clearly established.
This test may be considered for individuals who exhibit the following features:
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|