Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci

Svenningsson, Anna; Söderhäll, Cilla; Persson, Sofia; Lundberg, Fredrik; Luthman, Holger; Chung, Eddie M.K.; Gardiner, Mark; Kockum, Ingrid; Nordenskjöld, Agneta

doi:10.1038/jhg.2011.137

Cited by 19 publications

(4 citation statements)

References 30 publications

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“…Differences across population subjects in allelic frequency and linkage disequilibrium also allow for contrasting results. Analyses of DNAs obtained from three Swedish families with multiple affected members did not correlate with NOS1 locus ( Söderhäll & Nordenskjöld, 1998 ); however, a study of 37 Swedish vs 31 British families with IHPS suggested positive correlation ( Svenningsson et al, 2012 ). The major limitation of all studies was the limited number of subjects used.…”

Section: Survey Methodologymentioning

confidence: 85%

The expanding roles of neuronal nitric oxide synthase (NOS1)

Solanki

Rajpoot

Bezsonov

et al. 2022

PeerJ

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The nitric oxide synthases (NOS; EC 1.14.13.39) use L-arginine as a substrate to produce nitric oxide (NO) as a by-product in the tissue microenvironment. NOS1 represents the predominant NO-producing enzyme highly enriched in the brain and known to mediate multiple functions, ranging from learning and memory development to maintaining synaptic plasticity and neuronal development, Alzheimer’s disease (AD), psychiatric disorders and behavioral deficits. However, accumulating evidence indicate both canonical and non-canonical roles of NOS1-derived NO in several other tissues and chronic diseases. A better understanding of NOS1-derived NO signaling, and identification and characterization of NO-metabolites in non-neuronal tissues could become useful in diagnosis and prognosis of diseases associated with NOS1 expression. Continued investigation on the roles of NOS1, therefore, will synthesize new knowledge and aid in the discovery of small molecules which could be used to titrate the activities of NOS1-derived NO signaling and NO-metabolites. Here, we address the significance of NOS1 and its byproduct NO in modifying pathophysiological events, which could be beneficial in understanding both the disease mechanisms and therapeutics.

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Section: Survey Methodologymentioning

confidence: 85%

The expanding roles of neuronal nitric oxide synthase (NOS1)

Solanki

Rajpoot

Bezsonov

et al. 2022

PeerJ

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“…More detailed analysis was carried out for the following CA: CDH, EA, omphalocele (OM), gastroschisis (GS), omphalomesenteric duct (OMD), duodenal atresia (DA), intestinal atresia (IA) (jejunal/ileal/colonic), infantile hypertrophic pyloric stenosis (IHPS), Hirschsprung disease (HSCR), anorectal malformation (ARM), bladder exstrophy (BE), and posterior urethral valve (PUV). Although the recognition that IHPS is acquired and not a congenital disorder is increasing, the genetic background of isolated IHPS has been described in several studies, [15,16] contributing to the classification of IHPS as a congenital disorder in the present study. Clinical data were gathered from the medical records of patients undergoing surgical treatment for selected major gastrointestinal, muscular, orgenitourinary CA during the study period.…”

Section: Methodsmentioning

confidence: 87%

Epidemiologic and clinical characteristics of selected congenital anomalies at the largest Bosnian pediatric surgery tertiary center

Zvizdić¹,

Becirovic²,

Milišić³

et al. 2022

Medicine

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Congenital anomalies (CA) are any abnormality present at birth, either structural or functional, that may potentially affect an infant's health, development, and/or survival. There is a paucity of studies on clinical characteristics and outcomes of CA in Bosnia and Herzegovina, mainly due to the lack of a nationwide congenital malformations monitoring system. A 5-year hospital-based study was conducted to determine the prevalence at birth and clinical characteristics of selected major CA in Sarajevo Canton, Bosnia and Herzegovina. Ninety-one CA were observed from 2012 to 2016 (the overall prevalence was 39.6 cases/10,000 live births). The mean age of neonates at diagnosis was 3 days. The gastrointestinal tract was the most commonly affected system (76.9%), with esophageal atresia (EA) being the most frequent (17.6% of all CA). Major CA were more prevalent among preterm infants than term infants (P = .001), particularly in males (61.5% vs. 38.5%; P = .028; M:F ratio was 1.59). Multiple CA were seen in 37.4% of neonates. The overall mortality rate of neonates was 11%, and the median length of hospital stay was 19.8 days. Our study revealed the distribution and clinical patterns of common major CA in the largest tertiary care facility in Bosnia and Herzegovina. It also confirmed a relatively high mortality rate, which requires further efforts to improve the quality of neonatal care in the country.

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“…Different than for EA, there has been reported a male predominance for IHPS (4:1) (MacMahon, 2006). There have been risk loci associated to IHPS (Everett & Chung, 2013; Fadista et al, 2019; Feenstra et al, 2012; Feenstra et al, 2013; Svenningsson et al, 2012). To date, no risk loci have been described for EA.…”

Section: Discussionmentioning

confidence: 99%

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

Kate

Brouwer

Bever

et al. 2020

Birth Defects Research

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Background: Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. We hypothesized that defects disturbing foregut morphogenesis are responsible for this combination of malformations. Methods: We investigated the genetic variation of 15 patients with both EA and IHPS with unaffected parents using exome sequencing and SNP arraybased genotyping, and compared the results to mouse transcriptome data of the developing foregut. Results: We did not identify putatively deleterious de novo mutations or recessive variants. However, we detected rare inherited variants in EA or IHPS disease genes or in genes important in foregut morphogenesis, expressed at the proper developmental time-points. Two pathways were significantly enriched (p < 1 × 10 −5): proliferation and differentiation of smooth muscle cells and self-renewal of satellite cells. Conclusions: None of our findings could fully explain the combination of abnormalities on its own, which makes complex inheritance the most plausible genetic explanation, most likely in combination with mechanical and/or environmental factors. As we did not find one defining monogenetic cause for the EA/IHPS phenotype, the impact of the corrective surgery could should be further investigated.

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Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci

Cited by 19 publications

References 30 publications

The expanding roles of neuronal nitric oxide synthase (NOS1)

The expanding roles of neuronal nitric oxide synthase (NOS1)

Epidemiologic and clinical characteristics of selected congenital anomalies at the largest Bosnian pediatric surgery tertiary center

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

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