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Further delineation of Malan syndrome.

Priolo, M; Schanze, D; Tatton-Brown, K; Mulder, PA; Tenorio, J; Kooblall, K; Acero, IH; Alkuraya, FS; Arias, P; Bernardini, L; et al. Priolo, M; Schanze, D; Tatton-Brown, K; Mulder, PA; Tenorio, J; Kooblall, K; Acero, IH; Alkuraya, FS; Arias, P; Bernardini, L; Bijlsma, EK; Cole, T; Coubes, C; Dapia, I; Davies, S; Di Donato, N; Elcioglu, NH; Fahrner, JA; Foster, A; González, NG; Huber, I; Iascone, M; Kaiser, A-S; Kamath, A; Liebelt, J; Lynch, SA; Maas, SM; Mammì, C; Mathijssen, IB; McKee, S; Menke, LA; Mirzaa, GM; Montgomery, T; Neubauer, D; Neumann, TE; Pintomalli, L; Pisanti, MA; Plomp, AS; Price, S; Salter, C; Santos-Simarro, F; Sarda, P; Segovia, M; Shaw-Smith, C; Smithson, S; Suri, M; Valdez, RM; Van Haeringen, A; Van Hagen, JM; Zollino, M; Lapunzina, P; Thakker, RV; Zenker, M; Hennekam, RC (2018) Further delineation of Malan syndrome. Hum Mutat, 39 (9). pp. 1226-1237. ISSN 1098-1004 https://doi.org/10.1002/humu.23563
SGUL Authors: Tatton-Brown, Katrina Louise

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Abstract

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. This article is protected by copyright.

Item Type: Article
Additional Information: © 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: Malan syndrome, Marshall-Smith syndrome, NFIX, Sotos syndrome, Weaver syndrome, phenotype, phenotype-genotype, Genetics & Heredity, 0604 Genetics, 1103 Clinical Sciences
SGUL Research Institute / Research Centre: Academic Structure > Institute of Medical & Biomedical Education (IMBE)
Journal or Publication Title: Hum Mutat
ISSN: 1098-1004
Language: eng
Dates:
DateEvent
31 August 2018Published
25 June 2018Published Online
7 June 2018Accepted
Publisher License: Creative Commons: Attribution 4.0
Projects:
Project IDFunderFunder ID
FISP115/0148Feder FundsUNSPECIFIED
K08N092898National Institute of Neurological Disorders and Strokehttp://dx.doi.org/10.13039/100000065
PubMed ID: 29897170
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/109924
Publisher's version: https://doi.org/10.1002/humu.23563

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