Background and objective
Few studies have assessed the comorbid diseases in situs inversus totalis (SIT) comprehensively. The aim of this study was to provide insight into the spectrum and prevalence of comorbidities in SIT.
Methods
Children ≤18 years of age with SIT were enrolled in this retrospective observational study. Situs status and comorbidities were independently confirmed by two physicians, based on review of radiologic, ultrasonic examination, operative records, and case notes.
Results
A total of 155 children (median age: 1.24 years; range: 1 day–17.8 years) confirmed to have SIT were recruited between January 2008 and December 2018. Associated conditions were diagnosed in 114 children (73.5%). Among them, 25 children (16.1%) had multiple anomalies affecting two or more organ systems. The most commonly associated conditions were congenital heart defects (n = 72, 46.5%) followed by primary ciliary dyskinesia (n = 19, 12.3%), renal disorders (n = 12, 7.7%), biliary atresia (n = 7, 4.5%), skeletal dysplasia (n = 8, 5.2%), and mental retardation (n = 4, 2.6%).
Conclusion
A substantial proportion of children with SIT have comorbidities affecting multiple systems, especially cardiovascular and respiratory abnormalities. Children with SIT warrant careful examination for the presence of congenital and acquired abnormalities.
Background:
Polydactyly, characterized by supernumerary digits in the
upper or lower extremities, is the most common congenital digital abnormalities. It
derives from the defective patterning of anteroposterior axis of the developing limb, with
various etiology and clinical heterogeneity. The patients with post-axial polydactyly type
A (PAPA) have the typical symptom of a well-formed supernumerary digit outside the
fifth digit.
Objective:
The aim of present study was to identify the causative mutations of two
unrelated Han Chinese patients with non-syndromic PAPA.
Methods:
Two unrelated Han Chinese patients and 100 ethnicity-matched, unrelated
normal controls were recruited for this study. BGISEQ-500 exome sequencing was
performed in the two patients, followed by validation in the patients and 100 controls by
using Sanger sequencing.
Results:
Two mutations in the GLI family zinc finger 3 gene (GLI3), including a
frameshift mutation c.3437_3453delTCGAGCAGCCCTGCCCC (p.L1146RfsX95) and a
nonsense mutation c.3997C>T (p.Q1333X), were identified in two patients but were
absent in the 100 healthy controls.
Conclusion:
The two GLI3 mutations, p.L1146RfsX95 and p.Q1333X, may account for
non-syndromic PAPA in the two patients, respectively. The findings of this study may
expand the mutational spectrum of GLI3-PAPA and provide novel insights into the
genetic basis of polydactyly.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.