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Case Reports
. 2017 Jun 8;376(23):2266-2275.
doi: 10.1056/NEJMcpc1616019.

Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing

Ryan W Carroll  1 , Michelle L Katz  1 , Elahna Paul  1 , Harald Jüppner  1
Affiliations
Case Reports

Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing

Ryan W Carroll et al. N Engl J Med. .
No abstract available

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Figures

Figure 1
Figure 1. Genetic Analysis of the STX16–GNAS Region
Panel A shows a schematic depiction of the region extending from the syntaxin 16 (STX16) gene to the GNAS complex locus, which is located approximately 250 kb telomeric to STX16. The maternal and paternal alleles are shown for a healthy person and for this patient. The boxes represent different exons. GNAS exons 1 through 13 encode the α subunit of the stimulatory G protein (Gsα). Through the use of alternative first exons, additional transcripts are derived that are spliced onto Gsα exons 2 through 13. These include the A/B transcript, which is associated with exon A/B; the XLαs transcript, which is associated with exon XL; and the NESP55 transcript, which is associated with exon NESP. A noncoding antisense mRNA transcript is derived from antisense (AS) exons 1 through 5. The abbreviation Me indicates the location of a differentially methylated region. In most tissues, Gsα is expressed from both parental alleles; however, in the proximal renal tubules (and a few other tissues), it is derived mainly from the maternal allele. Panel B shows multiplex ligation-dependent probe amplification (MLPA; MRC-Holland) of the STX16–GNAS region. The dashed line shows the normal ratio (1.0); in a patient with a deletion that affects one parental allele, the ratio is 0.5. In this patient, there is no evidence of allelic loss at the GNAS and STX16 exons. Panel C shows methylation-specific MLPA for the patient and his mother. The probes are specific for exons NESP, AS, XL, and A/B; the dashed line shows normal methylation (50%). Analysis of DNA from the patient shows loss of methylation at GNAS exons AS, XL, and A/B and shows gain of methylation at GNAS exon NESP. In contrast, analysis of DNA from the patient’s mother, who was healthy, shows normal methylation at all four differentially methylated regions. Panel D shows the results of microsatellite-marker analysis for the patient and his parents. Each number indicates the size of a polymerase-chain-reaction amplicon that is derived from a parental allele; the presence of two different numbers at one marker indicates that the patient has two distinct repeats. Brown numbers indicate paternally inherited haplotypes, and purple numbers maternally inherited haplotypes.
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