ABSTRACT
OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with multiple pterygium syndrome (MPS).@*METHODS@#A child with MPS who was treated at the Orthopedics Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University on August 19, 2020 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were also collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing of her parents and bioinformatic analysis.@*RESULTS@#The child, an 11-year-old female, had a complain of "scoliosis found 8 years before and aggravated with unequal shoulder height for 1 year". WES results revealed that she has carried a homozygous c.55+1G>C splice variant of the CHRNG gene, for which both of her parents were heterozygous carriers. By bioinformatic analysis, the c.55+1G>C variant has not been recorded by the CNKI, Wanfang data knowledge service platform and HGMG databases. Analysis with Multain online software suggested that the amino acid encoded by this site is highly conserved among various species. As predicted with the CRYP-SKIP online software, the probability of activation and skipping of the potential splice site in exon 1 caused by this variant is 0.30 and 0.70, respectively. The child was diagnosed with MPS.@*CONCLUSION@#The CHRNG gene c.55+1G>C variant probably underlay the MPS in this patient.
Subject(s)
Humans , Child , Female , Abnormalities, Multiple/genetics , Malignant Hyperthermia/genetics , Skin Abnormalities/genetics , Heterozygote , Mutation , Receptors, Nicotinic/geneticsABSTRACT
Objective To review the authors′ experience in the diagnosis and management of Hirschsprung′s disease (HD) in newborn during a 7 year′s period (1995～2002),and evaluate a new therapeutic regime. Methods Clinical data of all 155 newborn HD cases were analyzed. Protocols were compared before and after May 2000. Results Barium enemas, anorectic manometry and rectal biopsies confirmed the diagnosis of HD in 155 newborn cases. Two stage radical procedure was performed in 107 cases , and one stage in 48 cases. One hundred and forty-seven cases were cured. Postoperative pneumonia occurred in 25 cases, wound dishences in 8 cases with 8 deaths. There was substantial difference in the incidence of complications, hospital stay and mortality between the two periods. Conclusions (1) Gastrointestinal perforation in neonatal HD cases should be managed by rectal biopsies during the exploration. (2)Different surgical treatment should be adopted in HD cases less than one month of age.