Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients

European Journal of Medical Genetics
Manuel SchiffSéverine Drunat

Abstract

The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism. The phenotype is attributed to haploinsufficiency of two genes present in the minimal critical region of MDS: PAFAH1B1 (formerly referred to as LIS1) and YWHAE. Whereas isolated PAFAH1B1 deletion causes lissencephaly, YWHAE is a candidate for the dysmorphic phenotype associated with MDS. We describe clinical, neuroradiological and molecular data in four patients with a 17p13.3 deletion distal to PAFAH1B1 involving YWHAE. All patients presented with mild or moderate developmental delay and pre and/or post-natal growth retardation. Patients A, B and C had neuro-imaging anomalies: leucoencephalopathy with macrocephaly (patients A and C), Chiari type 1 malformation (patient A) and paraventricular cysts (patient C). Patient B had patent ductus arteriosus and pulmonary arterial hypertension. Patient C had unilateral club foot. Patient D had enlarged Virchow Robin spaces, microcornea, and chorioretinal and lens coloboma. Array-CGH revealed de novo terminal 17p13.3 deletions for patient A and B, and showed interstitial 17p13.3 deletions of 1.4 Mb for patient C and of 0.5 Mb for patient...Continue Reading

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Citations

Jan 12, 2012·European Journal of Human Genetics : EJHG·Andrée DelahayeBrigitte Benzacken
Jul 7, 2011·Human Molecular Genetics·Yue LuoM Katharine Rudd
Feb 14, 2012·Current Problems in Pediatric and Adolescent Health Care·Patricia L Crotwell, H Eugene Hoyme
Nov 17, 2011·European Journal of Medical Genetics·John R ØstergaardNiels H Birkebæk
Mar 19, 2011·Journal of Molecular Biology·Karen M HenkelsJulian Gomez-Cambronero
Jan 5, 2011·European Journal of Medical Genetics·Capucine HyonMarie-France Portnoï
Apr 24, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Chiara RomanoSalvatore Grosso
Dec 21, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisa T EmrickBrendan Lee
Oct 14, 2020·Clinical Genetics·Anju ShuklaKatta Mohan Girisha

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