A 2.84 Mb Deletion at 21q22.11 in a Patient Clinically Diagnosed With Marden-Walker Syndrome

被引:8
作者
Carmen Carrascosa-Romero, Maria [1 ]
Suela, Javier [2 ]
Manuel Pardal-Fernandez, Jose [3 ]
Bermejo-Sanchez, Eva [4 ,5 ,6 ]
Vidal-Company, Alberto [7 ]
MacDonald, Alexandra [5 ]
Tebar-Gil, Roque [8 ]
Luisa Martinez-Fernandez, Maria [5 ,6 ]
Luisa Martinez-Frias, Maria [5 ,6 ,9 ]
机构
[1] Complejo Hosp Univ Albacete, Neurol Neonatal Serv Pediat, Albacete, Spain
[2] NIMGenet New Integrated Med Genet, Madrid, Spain
[3] Complejo Hosp Univ Albacete, Neurofisiol Serv Pediat, Albacete, Spain
[4] Minist Econ & Competitividad, IIER, Inst Salud Carlos III, Madrid, Spain
[5] Inst Salud Carlos III, Spanish Collaborat Study Congenital Malformat ECE, CIAC Res Ctr Congenital Anomalies, Madrid 28029, Spain
[6] Minist Econ & Competitividad, Inst Salud Carlos III, CIBERER, Madrid, Spain
[7] Complejo Hosp Univ Albacete, Nefrol Pediat Serv Pediat, Albacete, Spain
[8] Complejo Hosp Univ Albacete, Serv Pediat, Albacete, Spain
[9] Univ Complutense Madrid, Fac Med, Dept Farmacol, Minist Educ Cultura & Deporte, Madrid, Spain
关键词
microdeletion; 21q22.11; array-CGH; Marden-Walker syndrome; Chromosome; 21; intellectual disability; arthrogryposis multiplex congenita; MENTAL-RETARDATION; PHENOTYPE; 21Q; THROMBOCYTOPENIA; PROTEINS;
D O I
10.1002/ajmg.a.35862
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. The long-term follow-up allowed us to monitor the evolution of the phenotype in this patient, and among the main findings we highlight the following: demyelination of the pyramidal tract demonstrated by transcranial magnetic stimulation and the involvement of the levator muscles of angle of mouth in fixed facial expression with relative integrity of the rest of the facial expression muscles. A 244k array comparative genomic hybridization (aCGH) was carried out and showed a de novo interstitial deletion of approximately 2.84Mb affecting only the cytoband 21q22.11 (genome coordinates chr21:31,874,016-34,711,763). We selected 10 of the most recent published cases with either total or partial deletions of cytoband 21q22.11 that provided good characterization of the genomic size or the genes in the deleted regions. We observed that in nine of the 10 cases the deleted regions included the RUNX1 gene in 21q22.12, which is not affected in the current patient's deletion or in that of Patient 3 from Roberson et al. [2011]. After a comparison of shared deleted genes between cases, and correlation of their potential phenotypes, we concluded that the pattern of defects considered for a diagnosis of MWS may represent part of the phenotypic expression of a partial or total deletion of 21q22.11. (c) 2013 Wiley Periodicals, Inc.
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收藏
页码:2281 / 2290
页数:10
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