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

作者：Kasnauskiene Jurate^*; Ciuladaite Zivile; Preiksaitiene Egle; Matuleviciene Ausra; Alexandrou Angelos; Koumbaris George; Sismani Carolina; Pepalyte Ingrida; Patsalis Philippos C; Kucinskas Vaidutis

来源：European Journal of Medical Genetics, 2012, 55(4): 274-277.

DOI：10.1016/j.ejmg.2012.02.010

• Array-CGH
• del4q28.3
• Intellectual disability
• PCDH18 gene

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.

• 出版日期2012-4