Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

doi:10.1002/ajmg.a.37969

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Article

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

American journal of medical genetics. Part A - 1 Jan 2017

Gauthier-Vasserot Alexandra, Thauvin-Robinet Christel, Bruel Ange-Line, Duffourd Yannis, St-Onge Judith, Jouan Thibaud, Rivière Jean-Baptiste, Heron Delphine, Donadieu Jean, Bellanné-Chantelot Christine, Briandet Claire, Huet Frédéric, Kuentz Paul, Lehalle Daphné, Duplomb-Jego Laurence, Gautier Elodie, Maystadt Isabelle, Pinson Lucile, Amram Daniel, El Chehadeh Salima, Melki Judith, Julia Sophia, Faivre Laurence, Thevenon Julien

Abstract excerpt

Neutropenia can be qualified as congenital when of neonatal onset or when associated with extra-hematopoietic manifestations. Overall, 30% of patients with congenital neutropenia (CN) remain without a molecular diagnosis after a multidisciplinary consultation and tedious diagnostic strategy. In the rare situations when neutropenia is identified and associated with intellectual disability (ID), there are few...

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Identifiers

PMID: 27615324
DOI: 10.1002/ajmg.a.37969

Genes

CHD2
ELANE
HUWE1

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