Practices in synagogues regarding Jewish genetic disease education.

Approximately one in three Ashkenazi Jews are carriers for an autosomal recessive Jewish genetic disease (JGD). However, studies indicate that most Jews are uneducated on this topic and obstetricians do not routinely offer carrier screening to Jewish patients. Both the Reform and Conservative movements of Judaism call for JGD education to take place within the synagogue; however, little is known about the extent of this education occurring today. An online survey was created for Reform and Conservative rabbis to assess the types of JGD education taking place within the synagogue. Additionally, the survey included questions to assess JGD knowledge and possible factors that could predict counseling activity and knowledge level. Of the 94 participants, 91% had provided education about JGDs to congregants, with 98.8% providing this education during premarital counseling sessions. For most respondents, explaining recessive inheritance pattern and carrier screening was the extent of the discussion. Additionally, the majority of rabbis scored below 50% on the knowledge portion of the survey, with an average score of 1.9/4. There were no statistically significant differences between JGD education in Reform vs. Conservative synagogues, and there were no statistically significant predictors of knowledge score or JGD education frequency. In conclusion, while the number of rabbis discussing this topic is encouraging, discussion topics were found to be limited and their knowledge of JGDs was found to be poor.

Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene.

INTRODUCTION: The ATP6AP1 gene encodes for ATPase H+ transporting protein. ATP6AP1 gene mutations are associated with congenital disorders of glycosylation (CDG) and can affect multiple organ system. Descriptions of postnatal phenotype include immunodeficiency, hepatopathy and cognitive impairment. No prenatal phenotype of these gene mutations has been described to date. CASE: This is a description of the prenatal workup of an infant diagnosed with a X-linked ATP6AP1 gene mutation. First trimester ultrasound demonstrated a thickened nuchal translucency measured at 3.27 mm and dysmorphic spinal canal, corresponding to kyphoscoliosis finding postnatally. Findings from amniocentesis at 15 weeks included elevated amniotic fluid alpha-fetoprotein (AF-AFP) and positive acetylcholinesterase (AchE). Dilation of the aortic arch was seen on fetal echocardiogram at 20 weeks. Throughout the second trimester, a rim of fluid collection was seen under the skin covering the thoracic and lumbar fetal spine, consistent with a large Aplasia Cutis below the right scapula present at birth. CONCLUSION: To our knowledge, this is the first description of prenatal phenotype of an X-linked ATP6AP1 gene mutation, and the association of this gene mutation with increased NT, elevated AF-AFP and AchE and Aplasia Cutis Congenita. This variant was submitted to ClinVar public database, submission ID: SUB6537411.