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Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.

par Drielsma, Anaïs ;Jalas, Chaim;Simonis, Nicolas ;Désir, Julie ;Simanovsky, Natalia;Pirson, Isabelle ;Elpeleg, Orly;Abramowicz, Marc ;Edvardson, Simon
Référence Journal of medical genetics, 49, 11, page (708-712)
Publication Publié, 2012-11

Article révisé par les pairs

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Résumé :

Human congenital non-syndromic hydrocephalus is a vastly heterogeneous condition. A subgroup of cases are not secondary to a specific cause (eg, a neural tube defect), and within this subgroup, autosomal recessive inheritance has been described. One homozygous mutation in the DAPLE (Dvl-associating protein with a high frequency of leucine residues) protein-encoding gene CCDC88C (coiled-coil domain containing 88C) has recently been reported in a single family. The role of this gene has not been validated in another family, and no other autosomal recessive gene has been reported.