Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome

Chinen, Yoshiaki; Tohma, Takaya; Izumikawa, Yoshinori; Iha, Tetsu; Goya, Yoshinobu; Naritomi, Kenji

doi:10.1007/bf01913175

Cited by 11 publications

(6 citation statements)

References 18 publications

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“…At 2q24.1 → q3, the chromosomal location of ALK7, others have identified patients with e.g. craniosynostosis, bilateral ocular colobomata, and limb abnormalities (Chinen et al, 1996;Nixon et al, 1997), however, whether this is due to loss of ALK7 is not known. The ALK7 gene has been given the HUGO approved symbol ACVR1C (activin A, receptor, type 1C; alias ALK7, ACVRLK7).…”

Section: Alk7 Cdna Cloning and Expression Studiesmentioning

confidence: 99%

cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C)

Bondestam¹,

Huotari²,

Morén³

et al. 2001

Cytogenet Genome Res

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Transforming growth factor-β (TGF-β) superfamily related growth factors signal by binding to transmembrane type I and type II receptor serine/threonine kinases (RSTK), which phosphorylate intracellular Smad transcription factors in response to ligand binding. Here we describe the cloning of the human type I RSTK activin receptor-like kinase 7 (ALK7), an orthologue of the previously identified rat ALK7. Nodal, a TGF-β member expressed during embryonic development and implicated in developmental events like mesoderm formation and left-right axis specification, was recently shown to signal through ALK7. We found ALK7 mRNA to be most abundantly expressed in human brain, pancreas and colon. A cDNA encoding the open reading frame of ALK7 was obtained from a human brain cDNA library. Furthermore, a P1 artificial chromosome (PAC) clone containing the human ALK7 gene was isolated and fluorescent in situ hybridization (FISH) on metaphase chromosomes identified the gene locus as chromosome 2q24.1→q3. To test the functionality of the ALK7 signaling, we generated recombinant adenoviruses containing a constitutively active form of ALK7 (Ad-caALK7), which is capable of activating downstream targets in a ligand independent manner. Infection with Ad-caALK7 of MIN6 insulinoma cells, in which ALK7 has previously been shown to be endogenously expressed, led to a marked increase in the phosphorylation of Smad2, a signaling molecule also used by TGF-βs and activins.

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Section: Alk7 Cdna Cloning and Expression Studiesmentioning

confidence: 99%

cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C)

Bondestam¹,

Huotari²,

Morén³

et al. 2001

Cytogenet Genome Res

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“…Interstitial deletions encompassing the region 2q31.1 have been identified in more than 20 patients [McConnell et al, 1980; Shabtai et al, 1982; Al‐Awadi et al, 1983; Buchanan et al, 1983; Franceschini et al, 1983; Young et al, 1983; Moller et al, 1984; Benson et al, 1986; Ramer et al, 1989, 1990; Wamsler et al, 1991; Boles et al, 1995; Chinen et al, 1996; Nixon et al, 1997; McMilin et al, 1998; Del Campo et al, 1999; Slavotinek et al, 1999; Bijlsma et al, 2005; Pescucci et al, 2007; Svensson et al, 2007; Davidsson et al, 2008; Monfort et al, 2008; Tsai et al, 2009]. These deletions varied in size and location and were associated with variable clinical features including craniofacial dysmorphism, developmental delay, growth retardation, seizures, cleft palate, and anomalies of eyes, heart, genitalia, and limbs.…”

Section: Introductionmentioning

confidence: 99%

Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1

Mitter

Chiaie

Lüdecke

et al. 2010

American J of Med Genetics Pt A

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Microdeletions of the 2q31.1 region are rare. We present the clinical and molecular findings of eight previously unreported patients with overlapping deletions in 2q31.1. The patients have a variable clinical phenotype and present with developmental delay (7/8), growth retardation (5/8), seizures (2/8) and a craniofacial dysmorphism consisting of microcephaly (4/8), short palpebral fissures (7/8), broad eyebrows with lateral flare (7/8), low-set ears with thickened helices and lobules (5/8), and micrognathia (6/8). Additional congenital anomalies were noted, including limb abnormalities (8/8), heart defects (3/8), genital anomalies (3/8), and craniosynostosis (1/8). Six of these microdeletions, ranging in size from 1.24 to 8.35 Mb, were identified by array CGH, one larger deletion (19.7 Mb) was detected by conventional karyotyping and further characterized by array CGH analysis. The smallest region of overlap in all eight patients spans at most 88 kb and includes only the WIPF1 gene. This gene codes for the WAS/WASL interacting protein family member 1. The patients described here do not present with clinical signs of the Wiskott-Aldrich syndrome and the deletion of this single gene does not allow explaining the phenotype in our patients. It is likely that the deletion of different but overlapping sets of genes from 2q31 is responsible for the clinical variability in these patients. To further dissect the complex phenotype associated with deletions in 2q31, additional patients with overlapping phenotypes should be examined with array CGH. This should help to link particular phenotypes to specific genes, and add to our understanding of the underlying developmental processes.

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“…Among them, SCN1A on 2q24.3, which encodes voltage‐gated sodium channel 1 (alpha subunit), is a critical gene responsible for severe myoclonic epilepsy in infancy (SMEI) [Wallace et al, 2003], and there are many reports of cryptic chromosomal deletions involving SCN1A [Pereira et al, 2004; Madia et al, 2006; Pereira et al, 2006; Suls et al, 2006; Davidsson et al, 2008; Wang et al, 2008]. However, only a few patients have been reported to have a deletion of 2q24.2 [Fryns et al, 1977; McConnell et al, 1980; Shabtai et al, 1982; Moller et al, 1984; Bernar et al, 1985; Takahashi et al, 1985; Wamsler et al, 1991; Woods et al, 1993; Boles et al, 1995; Chinen et al, 1996; Nixon et al, 1997; McMilin et al, 1998; Slavotinek et al, 1999; Maas et al, 2000; Pereira et al, 2004; Langer et al, 2006; Madia et al, 2006; Suls et al, 2006; Pescucci et al, 2007; Davidsson et al, 2008; Grosso et al, 2008; Wang et al, 2008].…”

Section: Introductionmentioning

confidence: 99%

Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6

Takatsuki

Nakamura

Haga

et al. 2010

American J of Med Genetics Pt A

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Owing to the large size of chromosome 2, partial monosomy of the long arm of this chromosome gives rise to many specific phenotypes. We report on a 2-month-old girl with an interstitial deletion of 2q24.2q24.3, which was confirmed by microarray-based comparative genomic hybridization analysis. The patient showed delayed growth and mental retardation, early myoclonic seizures, and characteristic dysmorphic features including thick arched eyebrows, upslanting palpebral fissures, long eyelashes, depressed nasal bridge, short nose, long philtrum, small mouth, micrognathia, and low set ears. Her early myoclonic seizures were likely due to haploinsufficiency of SCN1A and SCN2A, which are included in the deletion region. When she experienced acute bronchopneumonia, she showed severe pulmonary emphysema. The deletion region of 2q24.2 includes the integrin beta6 gene (ITGB6), which may prevent acute lung injury and pulmonary emphysema. Many previously reported patients with deletions of 2q24.2 showed poor outcomes because of respiratory failure. These observations suggest the possibility of a strong relationship between haploinsufficiency of ITGB6 and pulmonary dysfunction.

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Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome

Cited by 11 publications

References 18 publications

cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C)

cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C)

Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1

Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6

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