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The December 2017 issue of The American Journal of Medical Genetics, Part C [Seminars in Medical Genetics, volume 175C Number 4] is devoted entirely to CHARGE syndrome – 12 papers in all.This and a following five part series will cover the 12 papers in this issue. 

Each part will highlight two papers, profile the authors and their connection to the CHARGE Syndrome Foundation and summarize their significance to individuals with CHARGE and their families.

PART ONE

“New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries”
Authors: Conny van Ravenswaaij-Arts and Donna M. Martin
Click Here For The Summary

“Genetic Counseling in CHARGE syndrome: Diagnostic evaluation through follow up”
Authors: Meg Hefner and Emily Fassi
Click Here For The Summary

 

PART TWO

“CHARGEd with neural crest defects”
Authors: Pauli, Bajpai, Borchers
Click Here For The Summary

“Distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model of CHARGE syndrome”
Authors: Whittaker, Kasah, Donovan, Ellegood, Riegman, Volk, Mcgonnell, Lerch, Basson
Click Here For The Summary

PART THREE

“Clinical and molecular effects of CHD7 in the heart”
Authors: Corsten-Janssen and Scambler
Click Here For The Summary

“Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures”
Authors: Choo, Tawfik, Martin, Raphael
Click Here For The Summary

PART
FOUR

“Reproductive endocrine phenotypes relating to CHD7 mutations in humans”
Authors: Balasubramanian and Crowley
Click Here For The Summary

“Immunodeficiency in CHARGE syndrome”
Authors: Mehr, Hsu, Campbell
Click Here For The Summary

PART FIVE

“Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe”
Authors: Kim D. Blake and Alexandra S. Hudson
Click Here For The Summary

“Behavior in CHARGE syndrome”
Authors: Timothy S. Hartshorne, Kasee K. Stratton, David Brown, Shanti Madhavan-Brown and Megan C. Schmittel
Click Here For The Summary

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knowledgeAs first presented on Professional Day at the 2015 CHARGE Syndrome Conference:

Updated clinical diagnostic criteria for CHARGE syndrome have just been published by a team that includes two of our own:  Caitlin Hale, a genetic counselor who attended the 2015 conference as a Davenport Fellow, and Donna Martin, a medical geneticist long interested in CHARGE syndrome and the chair of the Foundation’s scientific advisory board.

This important paper was published online in the American Journal of Medical Genetics.  The proposed updated clinical criteria proposed CHD7 variants as a major feature, along with coloboma, choanal atresia and ear findings. CHARGE remains a complicated condition with lots of variability – no two children are exactly alike and no one feature is required for a diagnosis.

This paper emphasizes the usefulness of CHD7 testing in the clinical diagnostic evaluation of possible CHARGE syndrome.

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.