G2Cdb::Human Disease report

Disease id
D00000133
Name
May-Hegglin anomaly
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002004 MYH9
myosin, heavy chain 9, non-muscle
Y (16978745) Unknown (?) Y
G00002004 MYH9
myosin, heavy chain 9, non-muscle
Y (16642488) Unknown (?) Y

References

  • Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly.

    Otsubo K, Kanegane H, Nomura K, Ogawa J, Miyawaki T and Kunishima S

    Pediatric blood & cancer 2006;47;7;968-9

  • [The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene].

    Schleinitz N, Favier R, Mazodier K, Difeo A, Ebbo M, Veit V, Berda-Haddad Y, Bernit E, Heudier P, Kaplanski G, Camoin L, Bardet V and Harle JR

    Service de médecine interne, CHU la Conception, APHM, boulevard Baille, 13385 Marseille cedex 05, France. nicolas.schleinitz@ap-hm.fr

    Introduction: Familial macrothrombocytopenias are a group of rare autosomal dominant platelet disorders including many syndromes in particular the May-Hegglin anomaly. They are characterized by thrombocytopenia with giant platelets and in some cases neutrophilic inclusions in peripheral blood granulocytes. Recently these different clinical entities have been demonstrated to be linked to mutations in the same gene, MYH9.

    We report in a young African woman presenting as a May-Hegglin anomaly a new mutation of the MYH9 gene. In regard of this case we present a brief review of the MYH9 syndrome.

    Conclusion: The MYH9 syndrome includes now several clinical entities who share some common clinical and biological characteristics such as a thrombocytopenia with giant platelets, presence or absence of other manifestations including Dohle like bodies, nephritis, sensorineural hearing loss, cataract. We report a new case in which a new mutation of the MYH9 gene was evidenced.

    La Revue de medecine interne 2006;27;10;783-6

Literature (2)

Pubmed - human_disease

  • Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly.

    Otsubo K, Kanegane H, Nomura K, Ogawa J, Miyawaki T and Kunishima S

    Pediatric blood & cancer 2006;47;7;968-9

  • [The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene].

    Schleinitz N, Favier R, Mazodier K, Difeo A, Ebbo M, Veit V, Berda-Haddad Y, Bernit E, Heudier P, Kaplanski G, Camoin L, Bardet V and Harle JR

    Service de médecine interne, CHU la Conception, APHM, boulevard Baille, 13385 Marseille cedex 05, France. nicolas.schleinitz@ap-hm.fr

    Introduction: Familial macrothrombocytopenias are a group of rare autosomal dominant platelet disorders including many syndromes in particular the May-Hegglin anomaly. They are characterized by thrombocytopenia with giant platelets and in some cases neutrophilic inclusions in peripheral blood granulocytes. Recently these different clinical entities have been demonstrated to be linked to mutations in the same gene, MYH9.

    We report in a young African woman presenting as a May-Hegglin anomaly a new mutation of the MYH9 gene. In regard of this case we present a brief review of the MYH9 syndrome.

    Conclusion: The MYH9 syndrome includes now several clinical entities who share some common clinical and biological characteristics such as a thrombocytopenia with giant platelets, presence or absence of other manifestations including Dohle like bodies, nephritis, sensorineural hearing loss, cataract. We report a new case in which a new mutation of the MYH9 gene was evidenced.

    La Revue de medecine interne 2006;27;10;783-6

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.