Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus

Chen, Chih‐Ping; Liu, Yu Peng; Lin, Shaun Pei; Chen, Ming; Tsai, Fuu Jen; Chen, Yuting; Chen, Li Feng; Hwang, Jonathan Kwei; Wang, Wayseen

doi:10.1016/s1028-4559(10)60015-0

Cited by 17 publications

(11 citation statements)

References 20 publications

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“… 10 As PAVSD may be considered to be at the more severe end of the spectrum of the cardiac phenotype in relation to ToF, the loss of one copy at this locus may implicate a more profound cardiac developmental effect for CHD than would a gain of copy. Isolated case reports indicate a link between CHD and large deletions in this region at the resolution of the chromosome band, including two from Taiwan and Japan with ToF 30 and PAVSD, 31 respectively, that overlap NXN . This suggests that a critical region for CHD may be located in the region of the NXN gene ( Figure 3 ), in addition to the more proximal MDS region ( Figure 3 ).…”

Section: Resultsmentioning

confidence: 98%

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De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

et al. 2016

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Conotruncal heart anomalies (CTDs) are particularly prevalent congenital heart diseases (CHD) in Hong Kong. We surveyed large (>500 kb), rare (<1% frequency in controls) copy-number variations (CNVs) in Chinese patients with CTDs to identify potentially disease-causing variations. Adults who tested negative for 22q11.2 deletions were recruited from the adult CHD clinic in Hong Kong. Using a stringent calling criteria, high-confidence CNV calls were obtained, and a large control set comprising 3,987 Caucasian and 1,945 Singapore Chinese subjects was used to identify rare CNVs. Ten large rare CNVs were identified, and 3 in 108 individuals were confirmed to harbour de novo CNVs. All three patients were syndromic with a more complex phenotype, and each of these CNVs overlapped regions likely to be important in CHD. One was a 611 kb deletion at 17p13.3, telomeric to the Miller–Dieker syndrome (MDS) critical region, overlapping the NXN gene. Another was a 5 Mb deletion at 13q33.3, within a previously described critical region for CHD. A third CNV, previously unreported, was a large duplication at 2q22.3 overlapping the ZEB2 gene. The commonly reported 1q21.1 recurrent duplication was not observed in this Chinese cohort. We provide detailed phenotypic and genotypic descriptions of large rare genic CNVs that may represent CHD loci in the East Asian population. Larger samples of Chinese origin will be required to determine whether the genome-wide distribution differs from that found in predominantly European CHD cohorts.

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Section: Resultsmentioning

confidence: 98%

“… 31 Deletion in patient with Tetralogy of Fallot (Chen et al ). 30 Deletion in DECIPHER Patient 4,350 with PDA, PS. Deletion in patient with PDA (Serrenath Nagamani et al 2009, patient 5).…”

Section: Figurementioning

confidence: 99%

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

et al. 2016

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“…Terminal deletion of 17p13.3 encompassing PAFAH1B1 causes Miller–Dieker (MIM # 247200) lissencephaly syndrome, characterized by cerebral agyria/pachygyria or type I lissencephaly, corpus callosum dysgenesis/agenesis, microcephaly, seizures, and distinctive facies. Septal defects and TOF are reported in both prenatal and postnatal cases in various studies (Chen et al, ; Kowase et al, ; Lalani, Shaw, et al, ). The 17q23.1‐q23.2 deletion syndrome (MIM 613355) involving dosage‐sensitive genes, TBX2 and TBX4 causes cardiovascular phenotype such as PDA, secundum ASD, and pulmonary hypertension (Ballif et al, ; Kerstjens‐Frederikse et al, ; Nimmakayalu et al, ).…”

Section: Genomic Disorders and Chdmentioning

confidence: 99%

“…Other genomic disorders that are less frequently observed in association with cardiovascular defects are described in this section. (Chen et al, 2010;Kowase et al, 1997;Lalani, Shaw, et al, 2013). The 17q23.1-q23.2 deletion syndrome (MIM 613355) involving dosage-sensitive genes, TBX2 and TBX4 causes cardiovascular phenotype such as PDA, secundum ASD, and pulmonary hypertension (Ballif et al, 2010;Kerstjens-Frederikse et al, 2013;Nimmakayalu et al, 2011).…”

Section: Other Genomic Disordersmentioning

confidence: 99%

Other genomic disorders and congenital heart disease

Lalani

2020

American J of Med Genetics Pt C

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Congenital heart disease (CHD) is the common birth defect worldwide. Despite its recognized burden on public health, the etiology in the vast majority of individuals remains unknown. Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are increasingly responsible for CHD with variable penetrance. Single gene disorders, epigenetic alterations, and environmental etiologies are also significant contributors. Our understanding of the genetic basis of CHD has increased exponentially with the escalating use of next generation sequencing to identify ever so small submicroscopic genomic imbalances at the level of coding exons in CHD. This review focuses on genomic disorders other than 22q11.2 deletion, that are major players in the etiology of human cardiac malformations.

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“…Herman and Siegel [20] distal 17p deletion Aslan et al [21] (À) ( þ) ( þ) Lin et al [22] del(17)(p13.3) (þ) ( þ) Chen et al [23] del (17)…”

Section: Prenatal Sonographic Featuresmentioning

confidence: 99%

Prenatal Sonographic Features of Miller-Dieker Syndrome

Chen

Chien

2010

Journal of Medical Ultrasound

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KEY WORDS17p13.3 deletion, lissencephaly, Miller-Dieker syndrome, prenatal ultrasound Miller-Dieker syndrome (MDS) is a contiguous gene deletion disorder involving genes on chromosome 17p13.3. Clinical manifestations include central nervous system (CNS) anomalies (mainly Type I lissencephaly), facial dysmorphism, growth restriction, profound mental retardation, seizure, and extracranial anomalies. The affected individuals often die in infancy or early childhood. Owing to the poor prognosis of MDS, early diagnosis of fetuses with MDS is important. Currently, ultrasound is regarded as a useful tool in prenatal detection of MDS, in addition to fetal magnetic resonance imaging. This article provides an overview of the reported prenatal sonographic features of MDS, including CNS anomalies (ventriculomegaly, agyria or lissencephaly, abnormal sylvian fissures, agenesis or dysgenesis of corpus callosum, and microcephaly), intrauterine growth restriction, polyhydramnios, cardiac anomalies, omphalocele, facial anomalies, and rare anomalies. Several diseases may have phenotypic overlaps with MDS, including Type I lissencephaly (Lissencephaly 1, Lissencephaly 2, and X-linked lissencephaly) and Type II lissencephaly. Increasing the awareness and knowledge of fetal structural anomalies associated with MDS on prenatal ultrasound will be helpful in the early detection, thus allowing appropriate genetic counseling and optimize clinical management. ª

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Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus

Cited by 17 publications

References 20 publications

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

Other genomic disorders and congenital heart disease

Prenatal Sonographic Features of Miller-Dieker Syndrome

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