Purpose Chiari malformation type I (CMI), a rare disorder of the craniocerebral junction with an estimated incidence of 1 in 1280, is characterized by the downward herniation of the cerebellar tonsils of at least 5 mm through the foramen magnum, resulting in significant neurologic morbidity. Classical CMI is thought to be caused by an underdeveloped occipital bone, resulting in a posterior cranial fossa which is too small to accommodate the normal-sized cerebellum. In this review, we dissect the lines of evidence supporting a genetic contribution for this disorder. Methods We present the results of two types of approaches: animal models and human studies encompassing different study designs such as whole genome linkage analysis, case-control association studies, and expression studies. The update of the literature also includes the most recent findings emerged by whole exome sequencing strategy. Results Despite evidence for a genetic component, no major genes have been identified and the genetics of CMI is still very much unknown. One major challenge is the variability of clinical presentation within CMI patient population that reflects an underlying genetic heterogeneity. Conclusions The identification of the genes that contribute to the etiology of CMI will provide an important step to the understanding of the underlying pathology. The finding of a predisposing gene may lead to the development of simple and accurate diagnostic tests for better prognosis, counseling, and clinical management of patients and their relatives.
机构:
Univ Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Ancot, Frederic
Lemay, Philippe
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机构:
Univ Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Lemay, Philippe
Knowler, Susan P.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Surrey, Fac Hlth & Med Sci, Sch Vet Med, Guildford GU2 7AL, Surrey, EnglandUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Knowler, Susan P.
Kennedy, Karen
论文数: 0引用数: 0
h-index: 0
机构:
London Hlth Sci Ctr, Dept Med Imaging, London, ON N6A 5A5, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Kennedy, Karen
Griffiths, Sandra
论文数: 0引用数: 0
h-index: 0
机构:
Stone Lion Vet Hosp, 42 High St, Wimbledon SW19 5AU, EnglandUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Griffiths, Sandra
Cherubini, Giunio Bruto
论文数: 0引用数: 0
h-index: 0
机构:
Dick White Referrals, Six Mile Bottom CB8 0UH, Cambs, EnglandUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Cherubini, Giunio Bruto
Sykes, Jane
论文数: 0引用数: 0
h-index: 0
机构:
Thames Valley Vet Serv, London, ON N6A 4V2, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Sykes, Jane
Mandigers, Paul J. J.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Utrecht, Fac Vet Med, Dept Clin Sci Compan Anim, NL-3584 CM Utrecht, NetherlandsUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Mandigers, Paul J. J.
Rouleau, Guy A.
论文数: 0引用数: 0
h-index: 0
机构:
Montreal Neurol Inst, Montreal, PQ H3A 2B4, Canada
McGill Univ, Montreal, PQ H3A 2B4, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Rouleau, Guy A.
Rusbridge, Clare
论文数: 0引用数: 0
h-index: 0
机构:
Univ Surrey, Fac Hlth & Med Sci, Sch Vet Med, Guildford GU2 7AL, Surrey, England
Fitzpatrick Referrals, Godalming GU7 2QQ, Surrey, EnglandUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Rusbridge, Clare
Kibar, Zoha
论文数: 0引用数: 0
h-index: 0
机构:
Univ Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Bamshad, Michael J.
Ng, Sarah B.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Ng, Sarah B.
Bigham, Abigail W.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Univ Michigan, Dept Anthropol, Ann Arbor, MI 48014 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Bigham, Abigail W.
Tabor, Holly K.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Seattle Childrens Res Inst, Treuman Katz Ctr Pediat Bioeth, Seattle, WA 98101 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Tabor, Holly K.
Emond, Mary J.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Biostat, Seattle, WA 98195 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Emond, Mary J.
Nickerson, Deborah A.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Nickerson, Deborah A.
Shendure, Jay
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
机构:
Icahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USAIcahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USA
Brewer, J. Richard
Mazot, Pierre
论文数: 0引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USAIcahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USA
Mazot, Pierre
Soriano, Philippe
论文数: 0引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USAIcahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USA
机构:
Univ Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Ancot, Frederic
Lemay, Philippe
论文数: 0引用数: 0
h-index: 0
机构:
Univ Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Lemay, Philippe
Knowler, Susan P.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Surrey, Fac Hlth & Med Sci, Sch Vet Med, Guildford GU2 7AL, Surrey, EnglandUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Knowler, Susan P.
Kennedy, Karen
论文数: 0引用数: 0
h-index: 0
机构:
London Hlth Sci Ctr, Dept Med Imaging, London, ON N6A 5A5, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Kennedy, Karen
Griffiths, Sandra
论文数: 0引用数: 0
h-index: 0
机构:
Stone Lion Vet Hosp, 42 High St, Wimbledon SW19 5AU, EnglandUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Griffiths, Sandra
Cherubini, Giunio Bruto
论文数: 0引用数: 0
h-index: 0
机构:
Dick White Referrals, Six Mile Bottom CB8 0UH, Cambs, EnglandUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Cherubini, Giunio Bruto
Sykes, Jane
论文数: 0引用数: 0
h-index: 0
机构:
Thames Valley Vet Serv, London, ON N6A 4V2, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Sykes, Jane
Mandigers, Paul J. J.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Utrecht, Fac Vet Med, Dept Clin Sci Compan Anim, NL-3584 CM Utrecht, NetherlandsUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Mandigers, Paul J. J.
Rouleau, Guy A.
论文数: 0引用数: 0
h-index: 0
机构:
Montreal Neurol Inst, Montreal, PQ H3A 2B4, Canada
McGill Univ, Montreal, PQ H3A 2B4, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Rouleau, Guy A.
Rusbridge, Clare
论文数: 0引用数: 0
h-index: 0
机构:
Univ Surrey, Fac Hlth & Med Sci, Sch Vet Med, Guildford GU2 7AL, Surrey, England
Fitzpatrick Referrals, Godalming GU7 2QQ, Surrey, EnglandUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
Rusbridge, Clare
Kibar, Zoha
论文数: 0引用数: 0
h-index: 0
机构:
Univ Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, CanadaUniv Montreal, CHU St Justine Res Ctr, Dept Neurosci, 3175 Cote St Catherine,Room 3 17 006, Montreal, PQ H3T 1C5, Canada
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Bamshad, Michael J.
Ng, Sarah B.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Ng, Sarah B.
Bigham, Abigail W.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Univ Michigan, Dept Anthropol, Ann Arbor, MI 48014 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Bigham, Abigail W.
Tabor, Holly K.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Seattle Childrens Res Inst, Treuman Katz Ctr Pediat Bioeth, Seattle, WA 98101 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Tabor, Holly K.
Emond, Mary J.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Biostat, Seattle, WA 98195 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Emond, Mary J.
Nickerson, Deborah A.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
Nickerson, Deborah A.
Shendure, Jay
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USA
机构:
Icahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USAIcahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USA
Brewer, J. Richard
Mazot, Pierre
论文数: 0引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USAIcahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USA
Mazot, Pierre
Soriano, Philippe
论文数: 0引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USAIcahn Sch Med Mt Sinai, Dept Dev & Regenerat Biol, Tisch Canc Inst, New York, NY 10029 USA