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Gene v.606, 2017년, pp.47 - 52   SCI SCIE
본 등재정보는 저널의 등재정보를 참고하여 보여주는 베타서비스로 정확한 논문의 등재여부는 등재기관에 확인하시기 바랍니다.

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1

Basel-Vanagaite, Lina (Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel ) ; Pillar, Nir (Department of Cell and Developmental Biology, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel ) ; Isakov, Ofer (Department of Cell and Developmental Biology, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel ) ; Smirin-Yosef, Pola (Genomic Bioinformatics Laboratory, Department of Molecular Biology, Ariel University, Israel ) ; Lagovsky, Irina (Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel ) ; Orenstein, Naama (Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel ) ; Salmon-Divon, Mali (Genomic Bioinformatics Laboratory, Department of Molecular Biology, Ariel University, Israel ) ; Tamary, Hannah (Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel ) ; Zaft, Tami (Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel ) ; Bazak, Lily (Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel ) ; Meyerovitch, Joseph (Sackler Faculty of Medicine, Tel Aviv University ) ; Pelli, Tal ; Botchan, Shay ; Farberov, Luba ; Weissglas-Volkov, Daphna ; Shomron, Noam ;
  • 초록  

    Abstract In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex). Interestingly, alternative splicing of exon 2, the same exon harboring the truncating mutation, was observed in the proband and in his unaffected mother. Alternative splicing of this exon is predicted to lead to an in-frame deletion. We provide further evidence that mutated AMMECR1 gene is responsible for this clinically recognizable X-linked condition with variable expressivity. Highlights Family with X-linked recessive syndrome caused by mutated AMMECR1 Clinical features include elliptocytosis, midface hypoplasia, short stature, hearing loss. AMMECR1 is localized in the critical region of contiguous deletion syndrome on Xq22.3. Region implicated in Alport syndrome, mental retardation, midface hypoplasia, elliptocytosis


  • 주제어

    X-linked .   Elliptocytosis .   AMMECR1 gene .   Genomics.  

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