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Whole-exome sequencing WES has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders.

Herzog, Hane Lee, Stan F. Godwin-kelly merig. Interestingly, one isolate we obtained from a captive black-naped fruit dove Ptilinopsus melanospilus, was not truly T. Dries, Paul G. Electron microscopy identified morphological differences among these species.

Hermorphadite sex. Associated Data

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The discovery of rare, heterogeneous self-renewing stem cells with shared developmental and molecular features within epithelial components of mammary gland and breast cancers has provided a conceptual framework to understand cellular composition of these tissues and mechanisms that control their number.

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Whole-exome sequencing WES has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders.

Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1. Advances in massively parallel, next generation sequencing such as whole-exome sequencing WES have led to improved molecular diagnostic rates for rare and undiagnosed Mendelian disorders, identification of new pathogenic gene variants, better treatment options, and accurate prediction of recurrence risk.

Consent for publication was obtained from parents of all subjects, and procedures were followed in accordance with guidelines specified by Institutional Review Boards and Ethics Committees of each institution. Experienced pediatricians, geneticists, and neurologists clinically assessed the individuals. The key clinical phenotypes are summarized in Table 1. Infantile epilepsy had been noted in all seven individuals, with infantile spasms in four.

Overall seizure control had been variable in the seven individuals but generally required multiple anti-epileptics and sub-specialized neurologic care.

Bilateral cataracts requiring surgical extraction were present in five out of seven individuals, with age of onset ranging from birth to 10 years, with variability in the type of cataracts. All individuals had a history of feeding difficulties or intolerance, with four out of seven requiring feeding by gastrostomy tube. Postnatal microcephaly was noted in five out of seven individuals, being evident prior to the onset of seizures in some individuals.

All individuals were described as being irritable or having bouts of severe irritability. Hypotonia, sleep disorders, breath-holding spells, and repetitive or choreiform movements, hand flapping, or Rett-like hand automatisms were present in the majority of individuals.

The appearance of a broad nasal tip was the only consistent facial dysmorphic feature noted in these individuals. ArgTrp Variant.

Recurrent De Novo c. A Family pedigrees for individuals 1—7 with de novo events in each affected proband. Note that unaffected sibling of individual 5 was also sequenced and found not to have the de novo variant.

B Sanger sequencing traces for individuals 1—7 showing the heterozygous de novo C-T transition at the c. Individual 7 was found to be mosaic for this variant in peripheral blood. Numbers below each individual represent allele count of alternative to reference alleles from exome sequencing. WES in all seven individuals identified a recurrent, heterozygous, de novo variant c. Sanger sequencing of this variant in all families confirmed de novo inheritance.

Low alternative allele fraction observed in the exome data 93 reference allele and 20 alternate allele and Sanger sequencing for individual 7 suggested NACC1 mosaicism. The significance of the allele balance bias observed at c. The c. Additional variants identified through exome sequencing in these individuals are summarized in Table S2.

The p. ArgTrp variant is not observed in the ExAC or gnomAD databases, although a missense change from arginine to leucine of the same amino acid p.

ArgTrp change that we report is likely to exert a specific functional effect on the protein and may lead to the distinct disease phenotype presented in this report. Extensive search of somatic databases identified a single case in metastatic breast cancer with the p.

ArgTrp variant. ArgTrp change is likely to exert a specific functional effect on the protein. ArgTrp missense change is depicted by a red star.

The amino acid residue is conserved in all four species and is within a stretch of identical residues. A single p. ArgCys change gray-green lollipop has been noted in a large cohort study of intellectual disability, 6 while the c.

Interestingly, a variant involving the same amino acid, converting from Arg to Leu c. ArgLeu] , has been observed once in the ExAC database and in four individuals in gnomAD, with undefined clinical information.

Spanning this region is a microdeletion, shown as a gray bar under the gene domain structure. Thus, our findings implicate NACC1 as a genome-wide significant disease-associated gene. Although NACC1 has not previously been associated with a Mendelian phenotype, a link between NACC1 and intellectual disability has been suggested, with apparent de novo variants being noted in single individuals within large sequencing studies of intellectual disability 5 , 6 and autism spectrum disorder 2 cohorts Table S3.

ArgTrp variant, strengthening the phenotypic association specific to this missense change. Individual 7 had a milder clinical presentation compared to the other individuals reported here; at 12 years of age he had not developed cataracts, had normal tone and head size, and was ambulatory with limited speech. This may be explained by the likely mosaicism of the recurrent c. NAC1 has a documented role in cancer.

This is associated with cell proliferation, migration and invasion, chemotherapy resistance, tumor recurrence, and poor prognosis. ArgTrp variant are at risk for cancers. Certainly, there is precedence for many genes in which germline variants cause neurodevelopmental disorders and somatic variants can be associated with cancers.

A dominant-negative function especially since the protein dimerizes or a gain-of-function GoF is possible for the p. NAC1 is known to have other biological functions, including involvement in psychomotor response to cocaine administration in rats, 30 , 31 , 32 vertebral patterning in mice, 44 interaction with Parkin suggestive of a role in Parkinson disease, 45 and involvement with TDP, which is implicated in individuals with amyotrophic lateral sclerosis.

Given the characteristic phenotype associated with the p. ArgTrp variant, future transcriptional investigations may further delineate the impact of this rare, recurrent, highly penetrant allele and could potentially lead to targeted therapies. The constellation of cataracts, severe epilepsy, profound intellectual disability, irritability, microcephaly, and stereotypical movements is unusual and given the consistent occurrence of these phenotypes across our seven individuals, the allele-specific variant that we report in NACC1 should be considered strongly in individuals with similar features.

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Annual Report by Dowling Catholic High School - Issuu

Dowling will inspire a Christ-centered love of learning and a respect for fellow human beings through the application of moral principles, a commitment to service, and excellence in academics, athletics, the arts, and extra-curricular activities. I want to extend my gratitude to our faculty and staff for the exceptional work they do with our students. They are wonderful role models, whether in the classroom, on retreats, in activities, doing service or any other of the many ways they interact with students.

In their ministry, they provide witness to help our students in their faith journey. I also want to thank parents, pastors, Bishop Pates, alumni, and friends for their support of our students. The Dowling Catholic High School community extends far and wide. Many individuals provide time, talent or treasure to support our students through the Annual Appeal, We Believe capital campaign, endowment gifts, United Way Pathways for Success, Dowling Club and the Guild.

In addition, countless volunteer hours are given in a wide variety of ways to support our students. All this support gives witness for our students as to how to live the gospels and learn the value and strength of community. Dowling Catholic High School has been blessed in many ways and each day we humbly give thanks for those many blessings. On our journey of faith together, these blessings allow us to assist each student to be their best version of self while learning to be a servant leader walking in the footsteps of Christ.

Thank you for helping make that happen! Your generosity plays a critical role in the advancement of Christ-Centered Leaders. Should you like to arrange for a visit, please call We are truly bessed to have this institution in our Diocese and I am proud to support their efforts. Dan Jones Brenda Kane Fr. Frank Allen, Jr. Their investments have been paramount in building the foundation of the school. Dowling Catholic is forever grateful for the support and loyalty of this special group.

This list does not include outstanding pledges. West Foundation West Bank. We have worked very diligently to ensure accurate donor listings. We thank you for your involvement and your generosity! Robert A. Leonard A. Our boys have grown as confident young men, students, athletes, and leaders, and their relationship with Christ seems to be stronger than ever.

The following symbols denote the funds to which our donors made contributions: Annual Appeal: Every aspect of Dowling Catholic is supported by the annual appeal. John F. These benefactors have informed the Advancement Office that they have included the school in their Will or planned another legacy gift.

This type of commitment provides long-term financial stability for the school, thus ensuring that a Dowling Catholic education will be provided for generations. Daniel J. John J. MG Fast Enterprises, Inc.

Financial Partners Group, Inc. Graham Group, Inc. MG Hart-Hammer, Inc. Principal Financial Group Foundation, Inc. Many named funds are created in memory or honor of a friend, mentor or loved one. We are grateful to all of the benefactors who have funded, and continue to fund, these important legacies of the future! Augustin Parents Msgr. Memorial Gifts are made in memory of someone who has passed away. Honor gifts are made to acknowledge a living person s.

These gifts are directed to support the financial aid endowment, unless otherwise specified. Dowling Catholic High School is grateful to be the recipient of the following memorial and honor gifts between July 1, and June 30, Honors Fr.

Josephs Chapel. Gratefully, DR. Spike John Whitty community that inspires me to be the best version of my self. Josephs Chapel www. Dowling Catholic High School. Published on Sep 25, Go explore.