A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

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• 作者：Elise Boudry-Labis^a ; ^{elise.labis@chru-lille.fr} ; B&eacute ; n&eacute ; dicte Demeer^b ; C&eacute ; dric Le Caignec^c ; Bertrand Isidor^c ; Michè ; le Mathieu-Dramard^b ; Ghislaine Plessis^d ; Alice M. George^e ; Juliet Taylor^f ; Salim Aftimos^f ; Adelheid Wiemer-Kruel^g ; Jü ; rgen Kohlhase^h ; Gö ; ran Anner&eacute ; nⁱ ; Helen Firth^j ; Ingrid Simonic^j ; Joris Vermeesch^k ; Ann-Charlotte Thuressonⁱ ; Henri Copin^l ; Donald R. Love^e ; Joris Andrieux^a
• 关键词：9q21.13 ; Interstitial deletion ; Mental retardation ; Epilepsy ; RORB ; Array-CGH
• 刊名：European Journal of Medical Genetics
• 出版年：2013
• 出版时间：March, 2013
• 年：2013
• 卷：56
• 期：3
• 页码：163-170
• 全文大小：990 K

文摘

The increased use of array-CGH and SNP-arrays for genetic diagnosis has led to the identification of new microdeletion/microduplication syndromes and enabled genotype-phenotype correlations to be made. In this study, nine patients with 9q21 deletions were investigated and compared with four previously Decipher reported patients.

Genotype-phenotype comparisons of 13 patients revealed several common major characteristics including significant developmental delay, epilepsy, neuro-behavioural disorders and recognizable facial features including hypertelorism, feature-less philtrum, and a thin upper lip. The molecular investigation identified deletions with different breakpoints and of variable lengths, but the 750?kb smallest overlapping deleted region includes four genes. Among these genes, RORB is a strong candidate for a neurological phenotype.

To our knowledge, this is the first published report of 9q21 microdeletions and our observations strongly suggest that these deletions are responsible for a new genetic syndrome characterised by mental retardation with speech delay, epilepsy, autistic behaviour and moderate facial dysmorphy.