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21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

Abstract：

:Here we report three patients affected with neurodevelopmental disorders and harbouring 21q21 deletions involving NCAM2 gene. NCAM (Neural Cell Adhesion Molecule) proteins are involved in axonal migration, synaptic formation and plasticity. Poor axonal growth and fasciculation is observed in animal models deficient for NCAM2. Moreover, this gene has been proposed as a candidate for autism, based on genome-wide association studies. In this report, we provide a comprehensive molecular and phenotypical characterisation of three deletion cases giving additional clues for the involvement of NCAM2 in neurodevelopment.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Petit F,Plessis G,Decamp M,Cuisset JM,Blyth M,Pendlebury M,Andrieux J

doi

10.1016/j.ejmg.2014.11.004

subject

Has Abstract

pub_date

2015-01-01 00:00:00

pages

44-6

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(14)00209-2

journal_volume

58

pub_type

杂志文章

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