{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Aran A"],"funding":["NIMH NIH HHS"],"pagination":["2016-24"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4887125"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["86(21)"],"pubmed_abstract":["<h4>Objective</h4>To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability.<h4>Methods</h4>Identification of the responsible gene by whole exome sequencing and homozygosity mapping.<h4>Results</h4>Ten patients from 4 consanguineous Palestinian families manifested in utero with hyperechogenic brain foci, microcephaly, and intrauterine growth retardation. Postnatally, patients had progressive severe microcephaly, neonatal seizures, and virtually no developmental milestones. Brain imaging revealed dysplastic elongated masses in the midbrain-hypothalamus-optic tract area. Whole exome sequencing of one affected child revealed only PCD"],"journal":["Neurology"],"pubmed_title":["Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection."],"pmcid":["PMC4887125"],"funding_grant_id":["R01 MH083989"],"pubmed_authors":["Aran A","Rabinowitz R","Walsh T","Jaron R","King MC","Segev Y","Shen O","Fridman H","Lee M","Kamal L","Zuckerman S","Kohn Y","Zeligson S","Kanaan M","Rosenfeld N","Levy-Lahad E","Mazaki E","Segel R","Renbaum P","Gulsuner S"],"additional_accession":[]},"is_claimable":false,"name":"Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.","description":"<h4>Objective</h4>To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability.<h4>Methods</h4>Identification of the responsible gene by whole exome sequencing and homozygosity mapping.<h4>Results</h4>Ten patients from 4 consanguineous Palestinian families manifested in utero with hyperechogenic brain foci, microcephaly, and intrauterine growth retardation. Postnatally, patients had progressive severe microcephaly, neonatal seizures, and virtually no developmental milestones. Brain imaging revealed dysplastic elongated masses in the midbrain-hypothalamus-optic tract area. Whole exome sequencing of one affected child revealed only PCD","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 May","modification":"2026-06-04T13:59:34.02Z","creation":"2019-03-27T02:14:53Z"},"accession":"S-EPMC4887125","cross_references":{"pubmed":["27164683"],"doi":["10.1212/WNL.0000000000002704","10.1212/wnl.0000000000002704"]}}