A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features

被引：53

作者：

Papa, Filomena Tiziana ^{[1
]}

Mencarelli, Maria Antonietta ^{[1
]}

Caselli, Rossella ^{[1
]}

Katzaki, Eleni ^{[1
]}

Sampieri, Katia ^{[1
]}

Meloni, Ilaria ^{[1
]}

Ariani, Francesca ^{[1
]}

Lon, Ilaria ^{[1
]}

Maggio, Angela ^{[2
]}

Balestri, Paolo ^{[2
]}

Grosso, Salvatore ^{[2
]}

Farnetani, Maria Angela ^{[2
]}

Berardi, Rosario ^{[2
]}

Mari, Francesca ^{[1
]}

Renieri, Alessandra ^{[1
]}

机构：

[1] Univ Siena, Med Genet Mol Biol Dept, I-53100 Siena, Italy

[2] Univ Siena, Dept Pediat, I-53100 Siena, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 15期

关键词：

chromosome; 14; array-CGH; 14q deletion; Rett-like features; FOXG1B gene;

D O I：

10.1002/ajmg.a.32413

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The present report describes a 7-year-old girl with a de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array-CGH. The region is gene poor and contains only five genes two of them, FOXG1B and PRKD1 being deleted also in a previously reported case with a very similar phenotype. Both patients present prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears and a clinical course like Rett syndrome, including normal perinatal period, postnatal microcephaly, seizures, and severe mental retardation. FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation. (c) 2008 Wiley-Liss, Inc.

引用

页码：1994 / 1998

页数：5

共 11 条

[1] Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features [J].

Bisgaard, Anne-Marie ;

Kirchhoff, Maria ;

Tumer, Zeynep ;

Jepsen, Birgit ;

Brondum-Nielsen, Karen ;

Cohen, Monika ;

Hamborg-Petersen, Bente ;

Bryndorf, Thue ;

Tommerup, Niels ;

Skovby, Flemming .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (20) :2180-2187

[2] Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation [J].

Bredenkamp, Nicholas ;

Seoighe, Cathal ;

Illing, Nicola .

DEVELOPMENT GENES AND EVOLUTION, 2007, 217 (03) :227-233

[3] Zinedin, SG2NA, and striatin are calmodulin-binding, WD repeat proteins principally expressed in the brain [J].

Castets, F ;

Rakitina, T ;

Gaillard, S ;

Moqrich, A ;

Mattei, MG ;

Monneron, A .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (26) :19970-19977

[4] Targeting of proteins of the striatin family to dendritic spines:: Role of the coiled-coil domain [J].

Gaillard, S ;

Bailly, Y ;

Benoist, M ;

Rakitina, T ;

Kessler, JP ;

Fronzaroli-Molinières, L ;

Dargent, B ;

Castets, F .

TRAFFIC, 2006, 7 (01) :74-84

[5]

JOHANNES FJ, 1994, J BIOL CHEM, V269, P6140

[6] Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes [J].

Kamnasaran, D ;

O'Brien, PCM ;

Schuffenhauer, S ;

Quarrell, O ;

Lupski, JR ;

Grammatico, P ;

Ferguson-Smith, MA ;

Cox, DW .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 102 (02) :173-182

[7]

LIVAK K, 1997, USER B, V2

[8] Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder [J].

Makishima, T ;

Rodriguez, CI ;

Robertson, NG ;

Morton, CC ;

Stewart, CL ;

Griffith, AJ .

HUMAN GENETICS, 2005, 118 (01) :29-34

[9] 2q24-q31 Deletion: Report of a case and review of the literature [J].

Pescucci, C. ;

Caselli, R. ;

Grosso, S. ;

Mencarelli, M. A. ;

Mari, F. ;

Farnetani, M. A. ;

Piccini, B. ;

Artuso, R. ;

Bruttini, M. ;

Priolo, M. ;

Zuffardi, O. ;

Gimelli, S. ;

Balestri, P. ;

Renieri, A. .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2007, 50 (01) :21-32

[10] Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies [J].

Petek, E ;

Plecko-Startinig, B ;

Windpassinger, C ;

Egger, H ;

Wagner, K ;

Kroisel, PM .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (04)

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