title: Clinical characterization of DISP1 haploinsufficiency: A case report.
abstract: Chromosome 1q41q42 microdeletions have been classified as a syndrome consisting of significant developmental delay, seizures, and characteristic dysmorphic features. They harbor different breakpoints and their smallest region of overlap at 1q41q42 involves several genes, including DISP1. Deletion or variants of DISP1 have been proposed as a candidate for the midline defects in this syndrome but may not be responsible for its major features in some cases. We report here a patient with a 183-kb deletion in chromosome 1q41, representing the smallest deletion identified among cases of the 1q41q42 microdeletion syndrome. The involved genes are DISP1 and TLR5. This patient developed seizures and developmental delay but showed no facial dysmorphism or organ defects. This deleted region was inherited from a phenotypically normal parent. This case may help define the role of the DISP1 haploinsufficiency in phenotype and support the suggestion that DISP1 mutation or deletion may reveal incomplete penetrance.
authors.affiliation: Department of Laboratory Medicine, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
authors.forename: Kyung Ran
authors.initials: KR
authors.lastname: Jun
authors.forename: Yun Jung
authors.initials: YJ
authors.lastname: Hur
authors.forename: Jeong Nyeo
authors.initials: JN
authors.lastname: Lee
authors.forename: Hye Ran
authors.initials: HR
authors.lastname: Kim
authors.forename: Jeong Hwan
authors.initials: JH
authors.lastname: Shin
authors.forename: Seung Hwan
authors.initials: SH
authors.lastname: Oh
authors.forename: Ja Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Eul-Ju
authors.initials: EJ
authors.lastname: Seo
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D057895:Haploinsufficiency; D006801:Humans; D007223:Infant