Sunday, August 26, 2012

http://www.cnn.com/video/#/video/health/2012/08/24/exp-cohen-fathers-age-and-autism.cnn

http://www.cnn.com/video/#/video/health/2012/08/24/exp-cohen-fathers-age-and-autism.cnn

Friday, August 24, 2012

Older men are more likely than younger ones to have children with autism or schizophrenia, and a new genetic study points to why: compared with younger dads, older fathers pass on significantly more random genetic mutations to their offspring that increase the risk for these conditions. And when compared to the genetic contributions of the mother, older fathers are responsible for nearly all of a child’s random genetic mutations: a father’s age at conception may account for 97% of the new, or de novo, mutations found in his offspring, according to the new study led by Augustine Kong at deCODE Genetics in Iceland. Read more: http://healthland.time.com/2012/08/23/older-fathers-linked-to-kids-autism-and-schizophrenia-risk/#ixzz24TmAChQQ

Older men are more likely than younger ones to have children with autism or schizophrenia, and a new genetic study points to why: compared with younger dads, older fathers pass on significantly more random genetic mutations to their offspring that increase the risk for these conditions. And when compared to the genetic contributions of the mother, older fathers are responsible for nearly all of a child’s random genetic mutations: a father’s age at conception may account for 97% of the new, or de novo, mutations found in his offspring, according to the new study led by Augustine Kong at deCODE Genetics in Iceland. Read more: http://healthland.time.com/2012/08/23/older-fathers-linked-to-kids-autism-and-schizophrenia-risk/#ixzz24TmAChQQ

Older Fathers Linked to Kids’ Autism and Schizophrenia Risk Don't blame older mothers for their offsprings' developmental problems. A new study finds "there is probably much more reason to be concerned with the age of the father" Read more: http://healthland.time.com/2012/08/23/older-fathers-linked-to-kids-autism-and-schizophrenia-risk/#ixzz24TguFC7L

Older Fathers Linked to Kids’ Autism and Schizophrenia Risk Don't blame older mothers for their offsprings' developmental problems. A new study finds "there is probably much more reason to be concerned with the age of the father" Read more: http://healthland.time.com/2012/08/23/older-fathers-linked-to-kids-autism-and-schizophrenia-risk/#ixzz24TguFC7L

Rate of de novo mutations and the importance of father's age to disease risk.

Rate of de novo mutations and the importance of father's age to disease risk. Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WS, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K. Nature. 2012 Aug 22;488(7412):471-5. doi: 10.1038/nature11396. PMID: 22914163 [PubMed - in process]

Wednesday, August 22, 2012

http://www.nytimes.com/2012/08/23/health/fathers-age-is-linked-to-risk-of-autism-and-schizophrenia.html?_r=1&emc=na

http://www.nytimes.com/2012/08/23/health/fathers-age-is-linked-to-risk-of-autism-and-schizophrenia.html?_r=1&emc=na

Wednesday, August 01, 2012

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.


    2012 Jul 27. doi: 10.1002/ajmg.a.35496. [Epub ahead of print]

    Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

    Source

    Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin AP-HP, Paris, France; UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France. eric.pasmant@gmail.com.

    Abstract

    Here we report on a family with two siblings born to unrelated healthy parents, one with neurofibromatosis type 1 (NF1) and the other with Noonan syndrome (NS). Molecular investigations performed on the NF1 and PTPN11 genes showed two independent de novo mutations as a cause for NF1 in the NF1 proband and NS in her affected brother. Both de novo mutations were potentially of paternal origin, given the advanced paternal age at the time of conception. © 2012 Wiley Periodicals, Inc.
    Copyright © 2012 Wiley Periodicals, Inc.
    PMID:
    22847776
    [PubMed - as supplied by publisher] 

    Am J Med Genet A. 2012 Jul 27. doi: 10.1002/ajmg.a.35496. [Epub ahead of print] Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family. Pasmant E, Amiel J, Rodriguez D, Vidaud M, Vidaud D, Parfait B. Source Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin AP-HP, Paris, France; UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France. eric.pasmant@gmail.com. Abstract Here we report on a family with two siblings born to unrelated healthy parents, one with neurofibromatosis type 1 (NF1) and the other with Noonan syndrome (NS). Molecular investigations performed on the NF1 and PTPN11 genes showed two independent de novo mutations as a cause for NF1 in the NF1 proband and NS in her affected brother. Both de novo mutations were potentially of paternal origin, given the advanced paternal age at the time of conception. © 2012 Wiley Periodicals, Inc. Copyright © 2012 Wiley Periodicals, Inc.


    2012 Jul 27. doi: 10.1002/ajmg.a.35496. [Epub ahead of print]

    Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

    Source

    Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin AP-HP, Paris, France; UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France. eric.pasmant@gmail.com.

    Abstract

    Here we report on a family with two siblings born to unrelated healthy parents, one with neurofibromatosis type 1 (NF1) and the other with Noonan syndrome (NS). Molecular investigations performed on the NF1 and PTPN11 genes showed two independent de novo mutations as a cause for NF1 in the NF1 proband and NS in her affected brother. Both de novo mutations were potentially of paternal origin, given the advanced paternal age at the time of conception. © 2012 Wiley Periodicals, Inc.
    Copyright © 2012 Wiley Periodicals, Inc.