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Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.
Am J Med Genet A 2016; 170(6):1608-12AJ

Abstract

We report a case of a female child who has classical Freeman-Sheldon syndrome (FSS) associated with a previously reported recurrent pathogenic heterozygous missense mutation, c.2015G > A, p. (Arg672His), in MYH3 where the phenotypically normal mother is a molecularly confirmed mosaic. To the best of our knowledge, this is the first report in the medical literature of molecularly confirmed parental mosaicism for a MYH3 mutation causing FSS. Since proven somatic mosaicism after having an affected child is consistent with gonadal mosaicism, a significantly increased recurrence risk is advised. Parental testing is thus essential for accurate risk assessment for future pregnancies and the use of new technologies with next generation sequencing (NGS) may improve the detection rate of mosaicism. © 2016 Wiley Periodicals, Inc.

Authors+Show Affiliations

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26996280

Citation

Hague, Jennifer, et al. "Molecularly Proven Mosaicism in Phenotypically Normal Parent of a Girl With Freeman-Sheldon Syndrome Caused By a Pathogenic MYH3 Mutation." American Journal of Medical Genetics. Part A, vol. 170, no. 6, 2016, pp. 1608-12.
Hague J, Delon I, Brugger K, et al. Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation. Am J Med Genet A. 2016;170(6):1608-12.
Hague, J., Delon, I., Brugger, K., Martin, H., Abbs, S., & Park, S. M. (2016). Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation. American Journal of Medical Genetics. Part A, 170(6), pp. 1608-12. doi:10.1002/ajmg.a.37631.
Hague J, et al. Molecularly Proven Mosaicism in Phenotypically Normal Parent of a Girl With Freeman-Sheldon Syndrome Caused By a Pathogenic MYH3 Mutation. Am J Med Genet A. 2016;170(6):1608-12. PubMed PMID: 26996280.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation. AU - Hague,Jennifer, AU - Delon,Isabelle, AU - Brugger,Kim, AU - Martin,Howard, AU - Abbs,Stephen, AU - Park,Soo-Mi, Y1 - 2016/03/21/ PY - 2015/10/15/received PY - 2016/02/28/accepted PY - 2016/3/22/entrez PY - 2016/3/22/pubmed PY - 2017/10/25/medline KW - Freeman-Sheldon syndrome KW - MYH3 gene KW - arthrogryposis KW - mosaic KW - whistling-face syndrome SP - 1608 EP - 12 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 170 IS - 6 N2 - We report a case of a female child who has classical Freeman-Sheldon syndrome (FSS) associated with a previously reported recurrent pathogenic heterozygous missense mutation, c.2015G > A, p. (Arg672His), in MYH3 where the phenotypically normal mother is a molecularly confirmed mosaic. To the best of our knowledge, this is the first report in the medical literature of molecularly confirmed parental mosaicism for a MYH3 mutation causing FSS. Since proven somatic mosaicism after having an affected child is consistent with gonadal mosaicism, a significantly increased recurrence risk is advised. Parental testing is thus essential for accurate risk assessment for future pregnancies and the use of new technologies with next generation sequencing (NGS) may improve the detection rate of mosaicism. © 2016 Wiley Periodicals, Inc. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/26996280/Molecularly_proven_mosaicism_in_phenotypically_normal_parent_of_a_girl_with_Freeman_Sheldon_Syndrome_caused_by_a_pathogenic_MYH3_mutation_ L2 - https://doi.org/10.1002/ajmg.a.37631 DB - PRIME DP - Unbound Medicine ER -