ELECTRONIC LETTER

Chinese patients with sporadic Hirschsprung’s disease are predominantly represented by a single RET haplotype

M-M Garcia-Barceló¹, M-H Sham², V C-H Lui¹, B L-S Chen¹, Y-Q Song², W-S Lee¹, S-K Yung¹, G Romeo³, P K-H Tam¹

¹ Division of Paediatric Surgery, Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong SAR, China
² Department of Biochemistry, The University of Hong Kong
³ Laboratory of Medical Genetics, University of Bologna, Bologna, Italy

Correspondence to:
Correspondence to:
Professor Paul K-H Tam
Division of Paediatric Surgery, Department of Surgery, University of Hong Kong Medical Centre; Queen Mary Hospital, Hong Kong SAR, PR China; paultam@hkucc.hku.hk

Keywords: Hirschsprung’s disease; RET gene; haplotypes

Abbreviations: HWE, Hardy-Weinberg equilibrium; LSA, long segment aganglionosis; NT, chromosomes not transmitted; SNP, single nucleotide polymorphism; SSA, short segment aganglionosis; TDT, transmission disequilibrium test; TR, chromosomes transmitted

The first 150 words of the full text of this article appear below.

Hirschsprung’s disease is a developmental disorder characterised by the absence of ganglion cells in the nerve plexuses of the lower digestive tract. The Hirschsprung phenotype is variable and can be classified into two groups: SSA, or short segment aganglionosis, which includes patients with aganglionosis as far as the rectosigmoid junction; and LSA, or long segment aganglionosis, which includes patients with aganglionosis beyond the rectosigmoid junction. The condition presents in the neonatal period as a failure to pass meconium, chronic severe constipation, colonic distension, secondary electrolyte disturbances, and sometimes enterocolitis and bowel perforation.

The estimated population incidence is 1/5000 live births, although this is a representative value. The highest incidence is in Asian populations (2.8 per 10 000 life births) and the lowest in Hispanics (1 per 10 000 life births).¹ The male to female (M:F) ratio is approximately 4:1 for SSA patients and approximately 1:1 for LSA patients.¹ Approximately 20% . . . [Full text of this article]

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