A single gene deletion on 4q28.3: PCDH18 – A new candidate gene for intellectual disability?

Abstract We report a boy with severe developmental delay, seizures, microcephaly, hypoplastic corpus callosum, internal hydrocephalus and dysmorphic features (narrow forehead, round face, deep-set eyes, blue sclerae, large and prominent ears, nose with anteverted nares, thin upper lip, small and wid...

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Bibliographic Details
Published in:European journal of medical genetics 2012-04, Vol.55 (4), p.274-277
Main Authors: Kasnauskiene, Jurate, Ciuladaite, Zivile, Preiksaitiene, Egle, Matulevičienė, Aušra, Alexandrou, Angelos, Koumbaris, George, Sismani, Carolina, Pepalytė, Ingrida, Patsalis, Philippos C, Kučinskas, Vaidutis
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Array-CGH
Base Sequence
Cadherins - genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 4 - genetics
Comparative Genomic Hybridization
del4q28.3
DNA Copy Number Variations
Haploinsufficiency - genetics
Humans
Intellectual disability
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Karyotyping
Male
Medical Education
Molecular Sequence Data
PCDH18 gene
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Summary:Abstract We report a boy with severe developmental delay, seizures, microcephaly, hypoplastic corpus callosum, internal hydrocephalus and dysmorphic features (narrow forehead, round face, deep-set eyes, blue sclerae, large and prominent ears, nose with anteverted nares, thin upper lip, small and wide-spaced teeth, hyperextensibility of the elbows, wrists, and fingers, fingertip pads, broad hallux, sacral dimple), carrying a 1.53 Mb interstitial deletion at 4q28.3. The deletion was detected by Agilent 105K oligo-array genome hybridization and involves the genomic region between 137,417,338 and 138,947,282 base pairs on chromosome 4 (NCBI build 36). The alteration was inherited from a healthy mother and contains a single gene, PCDH18 which encodes a cadherin-related neuronal receptor thought to play a role in the establishment and function of cell–cell connections in the brain. Thus, haploinsufficiency of this gene may contribute to altered brain development and associated malformations. We found that this deletion is a private inherited copy number variation that is associated with specific clinical findings in our patient and propose the PCDH18 gene as a possible candidate gene for intellectual disability.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2012.02.010