Clinical features of microdeletion 9q22.3 (pat)

Shimojima, Keiko; Adachi, Masanori; Tanaka, Masasuke; Tanaka, Yoko; Kurosawa, Kenji; Yamamoto, Toshiyuki

doi:10.1111/j.1399-0004.2008.01141.x

Cited by 21 publications

(35 citation statements)

References 28 publications

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“…aCGH analysis aCGH analysis was performed using a Human Genome CGH Microarray 244 chip (Agilent Technologies, Santa Clara, CA, USA). 25 Genomic copy numbers were visualized using CGH Analytics version 3.5 software (Agilent Technologies).…”

Section: Materials and Methods Subjectsmentioning

confidence: 99%

“…25 Fifteen BAC clones, RP11-104O19, RP11-1038H1, RP11-198F11, RP11-305G1, RP11-46I8, RP11-457I18, RP11-104N2, RP11-61B20, CTD-2015K4, RP11-542C16, RP11-104H15, RP11-1081A10, RP11-89D11, RP11-1099M24 and RP11-1D5, all of which mapped around 7p13.2p13.1, and RP11-153A23, which mapped on 17q25.3 and used as a marker, were selected from the UCSC Human genome browser, March 2006 (http://genome.ucsc.edu/) ( Table 1).…”

Section: Fluorescence In Situ Hybridization Analysismentioning

confidence: 99%

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A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

et al. 2010

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Array-based comparative genomic hybridization identified a 2.3-Mb microdeletion of 17p13.2p13.1 in a boy presenting with moderate mental retardation, intractable epilepsy and dysmorphic features. This deletion region was overlapped with the previously proposed shortest region overlapped for microdeletion of 17p13.1 in patients with mental retardation, microcephaly, microretrognathia and abnormal magnetic resonance imaging (MRI) findings of cerebral white matter, in which at least 17 known genes are included. Among them, DLG4/PSD95, GPS2, GABARAP and KCTD11 have a function in neuronal development. Because of the functional importance, we paid attention to DLG4/PSD95 and GABARAP, and analyzed zebrafish in which the zebrafish homolog of human DLG4/PSD95 and GABARAP was knocked down and found that gabarap knockdown resulted in small head and hypoplastic mandible. This finding would be similar to the common findings of the patients with 17p13.1 deletions. Although there were no pathogenic mutations in DLG4/PSD95 or GABARAP in a cohort study with 142 patients with idiopathic developmental delay with/without epilepsy, further studies would be required for genes included in this region.

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Section: Materials and Methods Subjectsmentioning

confidence: 99%

Section: Fluorescence In Situ Hybridization Analysismentioning

confidence: 99%

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

et al. 2010

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“…So far 37 patients have been reported as being diagnosed with 9q22 deletions that either matched clinical criteria as regards diagnosis of NBCCS or include PTCH1 within the deleted interval, not including intragenic deletions [Sekhon et al, 1982;Ying et al, 1982;Farrell et al, 1991;Robb et al, 1991;Evans et al, 1993;Kroes et al, 1994;Shimkets et al, 1996;Paoloni-Giacobino et al, 2000;L'Hermine et al, 2002;Olivieri et al, 2003;Haniffa et al, 2004;Midro et al, 2004;Boonen et al, 2005;Cajaiba et al, 2006;Chen et al, 2006;Redon et al, 2006;Fujii et al, 2007;Nowakowska et al, 2007;de Ravel et al, 2009;Musani et al, 2009;Shimojima et al, 2009;Yamamoto et al, 2009;Muller et al, 2012]. Several of the patients presented craniosynostosis, severe obstructive hydrocephalus, macrosomia, and developmental delay, which are not usually seen in NBCCS.…”

Section: Discussionmentioning

confidence: 99%

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci

Garavelli¹,

Piemontese

Cavazza

et al. 2013

American J of Med Genetics Pt A

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Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition mainly characterized by the development of mandibular keratocysts which often have their onset during the second decade of life and/or multiple basal cell carcinoma (BCC) normally arising during the third decade. Cardiac and ovarian fibromas can be found. Patients with NBCCS develop the childhood brain malignancy medulloblastoma (now often called primitive neuro-ectodermal tumor [PNET]) in 5% of cases. The risk of other malignant neoplasms is not clearly increased, although lymphoma and meningioma can occur in this condition. Wilms tumor has been mentioned in the literature four times. We describe a patient with a 10.9 Mb 9q22.3 deletion spanning 9q22.2 through 9q31.1 that includes the entire codifying sequence of the gene PTCH1, with Wilms tumor, multiple neoplasms (lung, liver, mesenteric, gastric and renal leiomyomas, lung typical carcinoid tumor, adenomatoid tumor of the pleura) and a severe clinical presentation. We propose including leiomyomas among minor criteria of the NBCCS. 2894 INTRODUCTIONGorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) also known as basal cell nevus syndrome (BCNS, OMIM #109400) is an autosomal dominant condition due to haploinsufficiency of PTCH1 and mainly characterized by the development of mandibular keratocysts which often have their onset during adolescence and/or multiple basal cell carcinomas normally arising after age 20 [Hahn et al., 1996;Evans and Farndon, 2002;Gorlin, 2004;Muzio et al., 2013]. Exonic, multiexonic, and whole-gene deletions have been reported in about 6% of individuals with NBCCS [Evans and Farndon, 2002]. The studies of disease prevalence come from the UK population, where it is nearer to 1:30,827 [Evans et al., 2010]; The actual figure could be higher still, since less severe cases may not be diagnosed and Jones et al. [2011] recently reported an incidence of 1 in 19,000 births.NBCCS is clinically diagnosed in patients with one major diagnostic criterion and molecular confirmation or two major criteria or one major and two minor diagnostic criteria [Bree et al., 2011]. The major criteria are the following: (1) BCC before the age of 20 or excessive numbers of BBCs out of proportion to prior sun exposure and skin type, (2) odontogenic jaw keratocyst prior to 20 years of age, (3) palmar or plantar pitting, (4) lamellar calcification of the falx cerebri, (5) medulloblastoma typically desmoplastic, and (6) first-degree relative with NBCCS. The minor criteria are the following: (1) rib anomalies, (2) other specific skeletal malformations and radiologic changes (i.e., vertebral anomalies, kyphoscoliosis, short fourth metacarpals, postaxial polydactyly), (3) macrocephaly, (4) cleft lip/palate, (5) ovarian/ cardiac fibromas, (6) lymphomesenteric cysts, and (7) ocular anomalies including the following: strabismus, hypertelorism, congenital cataract, glaucoma, coloboma.The typical facial phenotype includes macrocephaly, frontal bossing, coarse face ...

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“…For patient 2, genomic copy number aberrations were analyzed using the Human Genome CGH Microarray 105A chip (Agilent Technologies, Santa Clara, CA) according to methods described elsewhere (Shimojima et al, 2009a). Briefly, 500 ng genomic DNA was extracted from peripheral blood of the patient and the reference individual, using the QIAquick DNA extraction kit (QIAgen, Valencia, CA), and was digested with restriction enzymes.…”

Section: Acgh Analysismentioning

confidence: 99%

Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly

Komoike

Fujii

Nishimura

et al. 2010

Genesis

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Summary: Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder presenting with an elfin-like face, supravalvular aortic stenosis, a specific cognitivebehavioral profile, and infantile hypercalcemia. We encountered two WBS patients presenting with infantile spasms, which is extremely rare in WBS. Array comparative genomic hybridization (aCGH) and fluorescent in situ hybridization (FISH) analyses revealed atypical 5.7-Mb and 4.1-Mb deletions at 7q11.23 in the two patients, including the WBS critical region and expanding into the proximal side and the telomeric side, respectively. On the proximal side, AUTS2 and CALN1 may contribute to the phenotype. On the telomeric side, there are two candidate genes HIP1 and YWHAG. Because detailed information of them was unavailable, we investigated their functions using gene knockdowns of zebrafish. When zebrafish ywhag1 was knocked down, reduced brain size and increased diameter of the heart tube were observed, indicating that the infantile spasms and cardiomegaly seen in the patient with the telomeric deletion may be derived from haploinsufficiency of YWHAG. genesis 48:233-243, 2010. V V C 2010 Wiley-Liss, Inc.

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Clinical features of microdeletion 9q22.3 (pat)

Cited by 21 publications

References 28 publications

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci

Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly

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