KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

Care4Rare Canada Consortium

doi:10.1002/ajmg.a.38010

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

Care4Rare Canada Consortium

Medicine

Medicine

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18 Citas (Scopus)

Resumen

Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes. Our findings further support the potential etiological link between these two classically distinct conditions.

Idioma original	English
Páginas (desde-hasta)	183-189
Número de páginas	7
Publicación	American Journal of Medical Genetics, Part A
Volumen	173
N.º	1
DOI	https://doi.org/10.1002/ajmg.a.38010
Estado	Published - ene. 1 2017

Nota bibliográfica

Funding Information:
We thank the patients and their family members for their participation and cooperation in our study. This work was performed under the Care4Rare Canada Consortium funded by Genome Canada, the Canadian Institutes of Health Research, the Ontario Genomics Institute, Ontario Research Fund, Genome Quebec and Children's Hospital of Eastern Ontario Research Foundation. We acknowledge the contribution of the high-throughput sequencing platform of the McGill University and Génome Québec Innovation Centre, Montréal, Canada. We would like to thank the Care4Rare Consortium: ‘Enhanced Care for Rare Genetic Diseases in Canada’; Gene Discovery Steering Committee—Kym Boycott (lead; University of Ottawa), Alex MacKenzie (co-lead; University of Ottawa), Jacek Majewski (McGill University), Michael Brudno (University of Toronto), Dennis Bulman (University of Ottawa), David Dyment (University of Ottawa). We also thank Taila Hartley (Clinical Coordinator) and Chandree Beaulieu (Project Manager) at the Children's Hospital of Eastern Ontario Research Institute for their contribution to the infrastructure of Care4Rare. SMKF is supported by the Canadian Institutes of Health Research Frederick Banting and Charles Best Canada Graduate Scholarship.

Publisher Copyright:
© 2016 Wiley Periodicals, Inc.

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

PubMed: MeSH publication types

Case Reports
Journal Article

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title = "KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection",

abstract = "Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes. Our findings further support the potential etiological link between these two classically distinct conditions.",

author = "{Care4Rare Canada Consortium} and Lauren Badalato and Farhan, {Sali M.K.} and Dilliott, {Allison A.} and Bulman, {Dennis E.} and Hegele, {Robert A.} and Goobie, {Sharan L.}",

note = "Funding Information: We thank the patients and their family members for their participation and cooperation in our study. This work was performed under the Care4Rare Canada Consortium funded by Genome Canada, the Canadian Institutes of Health Research, the Ontario Genomics Institute, Ontario Research Fund, Genome Quebec and Children's Hospital of Eastern Ontario Research Foundation. We acknowledge the contribution of the high-throughput sequencing platform of the McGill University and G{\'e}nome Qu{\'e}bec Innovation Centre, Montr{\'e}al, Canada. We would like to thank the Care4Rare Consortium: {\textquoteleft}Enhanced Care for Rare Genetic Diseases in Canada{\textquoteright}; Gene Discovery Steering Committee—Kym Boycott (lead; University of Ottawa), Alex MacKenzie (co-lead; University of Ottawa), Jacek Majewski (McGill University), Michael Brudno (University of Toronto), Dennis Bulman (University of Ottawa), David Dyment (University of Ottawa). We also thank Taila Hartley (Clinical Coordinator) and Chandree Beaulieu (Project Manager) at the Children's Hospital of Eastern Ontario Research Institute for their contribution to the infrastructure of Care4Rare. SMKF is supported by the Canadian Institutes of Health Research Frederick Banting and Charles Best Canada Graduate Scholarship. Publisher Copyright: {\textcopyright} 2016 Wiley Periodicals, Inc.",

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N2 - Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes. Our findings further support the potential etiological link between these two classically distinct conditions.

AB - Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes. Our findings further support the potential etiological link between these two classically distinct conditions.

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KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

Resumen

Nota bibliográfica

ASJC Scopus Subject Areas

PubMed: MeSH publication types

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