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Canadian scientists in the laboratory of Dr. Nicolas Pilon have found a new gene, Fam172a, that might be involved in CHARGE syndrome.

The researchers discovered that Fam172a mice exhibit many features similar to those observed in CHARGE syndrome.

“Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome”
Authors: Bélanger, Bérubé-Simard, Leduc, Bernas, Campeau, Lalani, Martin, Bielas, Moccia, Srivastava, Silversides, and Pilon
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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. 

Below we highlight each paper, 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: Ravenswaaij-Arts and Martin
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“Genetic Counseling in CHARGE syndrome: Diagnostic evaluation through follow up”
Authors: Hefner and Fassi
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PART TWO

“CHARGEd with neural crest defects”
Authors: Pauli, Bajpai, Borchers
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“Distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model of CHARGE syndrome”
Authors: Whittaker, Kasah, Donovan, Ellegood, Riegman, Volk, Mcgonnell, Lerch, Basson
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PART THREE

“Clinical and molecular effects of CHD7 in the heart”
Authors: Corsten-Janssen and Scambler
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“Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures”
Authors: Choo, Tawfik, Martin, Raphael
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PART
FOUR

“Reproductive endocrine phenotypes relating to CHD7 mutations in humans”
Authors: Balasubramanian and Crowley
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“Immunodeficiency in CHARGE syndrome”
Authors: Mehr, Hsu, Campbell
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PART FIVE

“Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe”
Authors: Blake and Hudson
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“Behavior in CHARGE syndrome”
Authors: Hartshorne, Stratton, Brown, Madhavan-Brown and Schmittel
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PART SIX

“Guidelines in CHARGE syndrome and the missing link: Cranial Imaging”
Authors: de Geus, Free, Verbist, Sival, Blake, Meiners, van Ravenswaaij-Arts
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“Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome”
Authors: Legendre, Abadie, Gilbert-Dussardier and 44 Others!
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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.