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Start Over Author "Amihood Singer" Journal molecular genetics & genomic medicine
2 results on '"Amihood Singer"'

1. BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Author

Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, and Mordechai Shohat

Subjects
blepharophimosis, BRPF1, intellectual disability, ptosis, Genetics, QH426-470
Abstract

Abstract Background Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been associated with a previously unrecognized autosomal dominant syndrome manifesting with intellectual disability (ID), hypotonia, dysmorphic facial features, ptosis, and/or blepharophimosis in 22 individuals. Patients and Methods We report a multiply affected nonconsanguineous family of mixed Jewish descent who presented due to ID in three male siblings. Molecular analysis of the family was pursued using whole exome sequencing (WES) and subsequent Sanger sequencing. Results Whole exome sequencing analysis brought to the identification of a novel heterozygous truncating mutation (c.556C>T, p.Q186*) in the BRPF1 gene in the affected siblings and their mother. The four affected individuals showed varying degrees of intellectual disability, distinct facial features including downslanted palpebral fissures, ptosis, and/or blepharophimosis. Their clinical characteristics are discussed in the context of previously reported patients with the BRPF1‐related phenotype. Conclusion The reported family contributes to the current knowledge regarding this unique and newly recognized genetic disorder, and further implicates the role of BRPF1 in human brain development.

Published
2019
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2. Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening

Author

Ifat Sarouk, Huda Mussaffi, Dario Prais, Bat El Bar Aluma, Meir Mei-Zahav, Lea Bentur, Soliman Alkrinawi, Galit Livnat, Elie Picard, Malena Cohen-Cymberknoh, Ori Efrati, Moshe Ashkenazi, Patrick Stafler, Ori Inbar, Michal Shteinberg, Micha Aviram, Michal Gur, Hannah Blau, Fahed Hakim, David Shoseyov, Concetta Bormans, Joseph Rivlin, Eitan Kerem, Adi Dagan, Amihood Singer, Doron M. Behar, and Gidon Akler

Subjects
0301 basic medicine, detection rate, medicine.medical_specialty, Prenatal diagnosis, 030105 genetics & heredity, Genetic analysis, Cystic fibrosis, cystic fibrosis, 03 medical and health sciences, symbols.namesake, Internal medicine, Genetics, medicine, Multiplex ligation-dependent probe amplification, Molecular Biology, Genotyping, Genetics (clinical), Sanger sequencing, preconception, business.industry, Genetic heterogeneity, Original Articles, medicine.disease, 030104 developmental biology, Carrier screening, symbols, Original Article, business
Abstract

Background Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan-population panels. Israel is characterized by genetically heterogeneous populations carrying a wide range of CFTR mutations. To assess the potential of expanding the current Israeli preconception screening program, we sought the subset of molecularly unresolved CF patients listed in the Israeli CF data registry comprising ~650 patients. Methods An Israeli nationwide genotyping of 152 CF cases, representing 176 patients lacking molecular diagnosis, was conducted. Molecular analysis included Sanger sequencing for all exons and splice sites, multiplex ligation probe amplification (MLPA), and next-generation sequencing of the poly-T/TG tracts. Results We identified 54 different mutations, of which only 16 overlapped the 22 mutations included in the Israeli preconception screening program. A total of 29/54 (53.7%) mutations were already listed as CF causing by the CFTR2 database, and only 4/54 (7.4%) were novel. Molecular diagnosis was reached in 78/152 (51.3%) cases. Prenatal diagnosis of 24/78 (30.8%) cases could have been achieved by including all CFTR2-causing mutations in the Israeli panel. Conclusions Our data reveal an overwhelming hidden abundance of CFTR gene mutations suggesting that expanded preconception carrier screening might achieve higher preconception detection rates.

Published
2017

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