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

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• 作者：Jurate Kasnauskiene^a ; ^{jurate.kasnauskiene@santa.lt} ; Zivile Ciuladaite^a ; Egle Preiksaitiene^a ; Au&scaron ; ra Matulevi膷ien臈^a ; Angelos Alexandrou^b ; George Koumbaris^b ; Carolina Sismani^b ; Ingrida Pepalyt臈^a ; Philippos C. Patsalis^b ; Vaidutis Ku膷inskas^a
• 关键词：Array-CGH ; del4q28.3 ; Intellectual disability ; PCDH18 gene
• 刊名：European Journal of Medical Genetics
• 出版年：2012
• 期刊代码：118_17697212
• 类别：med
• 出版时间：April, 2012
• 卷：55
• 期：4
• 页码：274-277
• 文件大小：388 K

摘要

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.