title: Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.
abstract: Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), on chromosome 17p13.3, has been shown to play a crucial role in neuronal development. The deletion of YWHAE, but not platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 (PAFAH1B1), underlies a newly recognized neurodevelopmental disorder, characterized by significant growth retardation, developmental delay/intellectual disability (DD/ID), distinctive facial appearance, and brain abnormalities. Here, we report on a girl with a terminal deletion of 17p13.3, including YWHAE but not PAFAH1B1, showing normal brain structure on MRI. She had mild developmental delay, a distinctive facial appearance, and severe growth retardation despite normal growth hormone levels, which was improved by growth hormone therapy. Expression analysis of YWHAE and PAFAH1B1 yielded results consistent with array CGH and FISH results. These results indicate that the dosage effect of YWHAE varies from severe to very mild structural brain abnormalities, and suggest that the expression of YWHAE is associated with a complex mechanism of neuronal development.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Enomoto
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Kishitani
authors.forename: Makiko
authors.initials: M
authors.lastname: Tominaga
authors.forename: Aki
authors.initials: A
authors.lastname: Ishikawa
authors.forename: Noritaka
authors.initials: N
authors.lastname: Furuya
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Masuno
authors.forename: Ken-Ichiro
authors.initials: K
authors.lastname: Yamada
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase / Q000235:genetics; D048948:14-3-3 Proteins / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D017931:DNA Primers; D005260:Female; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction
chemical_list: D048948:14-3-3 Proteins; D017931:DNA Primers; D008869:Microtubule-Associated Proteins; C482983:YWHAE protein, human; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human