Hirschsprung Disease in an Infant with a Contiguous Gene Syndrome of Chromosome 13

Shanske, Alan; Ferreira, José Carlos; Attiyeh, Eddie; Marion, Robert W.

doi:10.1203/00006450-199904020-00838

Cited by 13 publications

(25 citation statements)

References 17 publications

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“…31 Of note, all deletions found in our cohort are centromeric to 13q33.3q34, a region that was reported to be critical for microcephaly by Kirchhoff et al 30 Interestingly, a few patients in this cohort and in previous reports showed macrocephaly. 8,9 However, the pattern of deleted regions was the same as that in patients with normocephaly. Of note, the MTLR1/ MLNR gene, which encodes for the growth hormone secretagogue receptor found in the pituitary gland and brain, is involved in the control of growth hormone release, 32 and is deleted in 5/6 patients with macrocephaly in our cohort.…”

Section: Discussionmentioning

confidence: 85%

“…34 Hirschsprung disease has been reported in other patients with an interstitial deletion involving the region 13q22. 8,27,28,35,36 The milder form of constipation without evidence of intestinal aganglionosis seen in the reported patients may be explained by regulatory effects.…”

mentioning

confidence: 92%

“…Additional case reports on patients with an interstitial 13q deletion involving band 13q14, describe macrocephaly, hypertelorism, proptosis, cleft palate, macroglossia, hypotonia and mild to severe developmental delay. [8][9][10] In two patients with Rb and an interstitial deletion extending to 13q22, Hirschsprung disease was reported. 11,12 All these patients were analyzed using standard cytogenetic analysis.…”

Section: Introductionmentioning

confidence: 99%

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Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

et al. 2011

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Patients with an interstitial 13q deletion that contains the RB1 gene show retinoblastoma and variable clinical features. Relationship between phenotypic expression and loss of specific neighboring genes are unresolved, yet. We obtained clinical, cytogenetic and molecular data in 63 patients with an interstitial 13q deletion involving RB1. Whole-genome array analysis or customized high-resolution array analysis for 13q14.11q14.3 was performed in 38 patients, and cytogenetic analysis was performed in 54 patients. Deletion sizes ranged between 4.2 kb and more than 33.43 Mb; breakpoints were non-recurrent. Sequence analysis of deletion junctions in five patients revealed microhomology and insertion of 2-34 base pairs suggestive of non-homologous end joining. Milder phenotypic expression of retinoblastoma was observed in patients with deletions larger than 1 Mb, which contained the MED4 gene. Clinical features were compared between patients with small (within 13q14), medium (within 13q12.3q21.2) and large (within 13q12q31.2) deletions. Patients with a small deletion can show macrocephaly, tall stature, obesity, motor and/or speech delay. Patients with a medium deletion show characteristic facial features, mild to moderate psychomotor delay, short stature and microcephaly. Patients with a large deletion have characteristic craniofacial dysmorphism, short stature, microcephaly, mild to severe psychomotor delay, hypotonia, constipation and feeding problems. Additional features included deafness, seizures and brain and heart anomalies. We found no correlation between clinical features and parental origin of the deletion. Our data suggest that hemizygous loss of NUFIP1 and PCDH8 may contribute to psychomotor delay, deletion of MTLR1 to microcephaly and loss of EDNRB to feeding difficulties and deafness.

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Section: Discussionmentioning

confidence: 85%

mentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

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Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

et al. 2011

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“…The EDNRB gene encodes a heptahelical receptor that is involved in the G-protein-mediated intracellular signaling pathway. The human EDNRB gene lies on chromosome band 13q22 and comprises 7 exons, with a length of about 24 kb [22][23][24][25][26][27] . The predicted protein had 442 amino acids with a transmembrane topology similar to that of other G proteincoupled receptors which, when activated by a ligand, induce a calcium flux into the cells.…”

Section: Discussionmentioning

confidence: 99%

Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung’s disease

Duan

Zhang²,

Li³

2003

WJG

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AIM:To investigate the mutation of EDNRB gene and EDN-3 gene in sporadic Hirschsprung's disease (HD) in Chinese population. METHODS:Genomic DNA was extracted from bowel tissues of 34 unrelated HD patients which were removed by surgery. Exon 3, 4, 6 of EDNRB gene and Exon 1, 2 of EDN-3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP). RESULTS:EDNRB mutations were detected in 2 of the 13 short-segment HD. One mutant was in the exon 3, the other was in the exon 6. EDN-3 mutation was detected in one of the 13 short-segment HD and in the exon 2. Both EDNRB and EDN-3 mutations were detected in one short-segment HD. No mutations were detected in the ordinary or longsegment HD.

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“…The same chromosome was found to be deleted in another clinical case of HD by Bottani et al [1991]. Deletions of the distal long arm of human chromosome 13 were more recently investigated by high-resolution comparative genomic hybridization, and the Waardenburg-Shah syndrome (a disorder which combines the manifestation of Waardenburg syndrome and HD) has also been mapped to the EDNRB locus [Shanske et al, 2001].…”

Section: Discussionmentioning

confidence: 99%

Dual-Color High-Resolution Fiber-FISH Analysis on Lethal White Syndrome Carriers in Sheep

Pauciullo

Fleck

Lühken

et al. 2013

Cytogenet Genome Res

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Molecular defects occurring in the endothelin receptor type-B (EDNRB) gene are known to be associated with pigmentary anomalies and intestinal aganglionosis in humans, rodents and horses. We carried out a cytogenetic investigation in 2 ewes heterozygous for the deletion of the EDNRB gene and in 2 more females as control. The RBA-banding showed that all 4 ewes were karyologically normal. EDNRB gene-specific probes were produced by PCR and cloning. The application of the R-banding and propidium iodide-staining fluorescent in situ hybridization allowed mapping the gene to OAR 10q22 and confirmed the heterozygous status of the ewes investigated for the EDNRB gene deletion. For the fine estimation of the gene length in sheep and for the correct sizing of the chromosomal gap, a dual-color FISH was applied to high-resolution DNA fibers in combination with digital imaging microscopy. The comparison of the DNA fiber barcodes indicated a chromosomal deletion larger than the EDNRB gene itself. The length of the gene, not known for sheep until now, was estimated to be ∼21 kb, whereas the microchromosomal deletion was ∼100 kb. EDNRB is located in a chromosomal region previously shown to be a fragile site. The applied method allowed locating the potential breakpoints, thus permitting further interesting prospective investigations also in the field of the fragile sites in sheep.

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Hirschsprung Disease in an Infant with a Contiguous Gene Syndrome of Chromosome 13

Cited by 13 publications

References 17 publications

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung’s disease

Dual-Color High-Resolution Fiber-FISH Analysis on Lethal White Syndrome Carriers in Sheep

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