Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome

Traisrisilp, Kuntharee; Luewan, Suchaya; Sirilert, Sirinart; Jatavan, Phudit; Tongsong, Theera

doi:10.3390/diagnostics11101819

Cited by 2 publications

(2 citation statements)

References 8 publications

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“…The constructed whole-exome library was captured using the SureSelect Human All Exon V6 kit (Agilent Technologies, Santa Clara, CA, USA) and sequenced under the HiSeq 2000 platform (Illumina, San Diego, CA, USA), as per the manufacturer’s protocol. Bioinformatical assay of the datasets produced by whole-exome sequencing (WES, New York, NY, USA) was conducted as described elsewhere [ 81 , 82 , 83 , 84 ]. Sanger sequencing was conducted to validate the candidate variations discovered by WES and bioinformatical analysis.…”

Section: Methodsmentioning

confidence: 99%

Identification of SOX18 as a New Gene Predisposing to Congenital Heart Disease

et al. 2022

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Congenital heart disease (CHD) is the most frequent kind of birth deformity in human beings and the leading cause of neonatal mortality worldwide. Although genetic etiologies encompassing aneuploidy, copy number variations, and mutations in over 100 genes have been uncovered to be involved in the pathogenesis of CHD, the genetic components predisposing to CHD in most cases remain unclear. We recruited a family with CHD from the Chinese Han population in the present investigation. Through whole-exome sequencing analysis of selected family members, a new SOX18 variation, namely NM_018419.3:c.349A>T; p.(Lys117*), was identified and confirmed to co-segregate with the CHD phenotype in the entire family by Sanger sequencing analysis. The heterozygous variant was absent from the 384 healthy volunteers enlisted as control individuals. Functional exploration via luciferase reporter analysis in cultivated HeLa cells revealed that Lys117*-mutant SOX18 lost transactivation on its target genes NR2F2 and GATA4, two genes responsible for CHD. Moreover, the genetic variation terminated the synergistic activation between SOX18 and NKX2.5, another gene accountable for CHD. The findings strongly indicate SOX18 as a novel gene contributing to CHD, which helps address challenges in the clinical genetic diagnosis and prenatal prophylaxis of CHD.

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Section: Methodsmentioning

confidence: 99%

Identification of SOX18 as a New Gene Predisposing to Congenital Heart Disease

et al. 2022

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“…The pathogenesis differs from multiple pterygium syndrome caused by intra-uterine immobilization. 5 , 11 , 28 In PPS, the pathogenesis is partially understood. Membranes and thread-like Intra oral bands are caused by hyperproliferation of epithelial cell layers in the first trimester.…”

Section: Introductionmentioning

confidence: 99%

Orthopedic Surgical Management of Complicated Congenital Popliteal Pterygium Syndrome: A Case Report

Hasan¹,

Muhammad²,

Cein³

et al. 2023

ORR

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Introduction Popliteal pterygium syndrome (PPS) is a rare autosomal-dominant condition that causes fixed flexion deformity of the knee. The popliteal webbing and shortening of the surrounding soft tissue could limit the functionality of the affected limb unless it is surgically corrected. We reported a case of PPS in a pediatric patient encountered in our hospital. Case A 10-month-old boy came with a congenital abnormally flexed left knee with bilateral undescended testis and syndactyly of the left foot. The left popliteal pterygium extending from the buttock to the calcaneus was observed, with an associated fixed flexion contracture of the knee and equine position of the ankle. Normal vascular anatomy was seen in the angiographic CT scan; therefore, multiple Z-plasty and fibrotic band excision were performed. The sciatic trunk was exposed on the popliteal level, and the fascicular segment was excised from the distal stump and sutured to the proximal stump under the microscope to extend the sciatic nerve for approximately 7 cm. No postoperative complications were reported. Multiple tendons and soft tissue reconstruction were performed when the patient was 2-year-old to correct the adductus and equine deformity of the left foot. Discussion Surgical correction for popliteal pterygium demands staged techniques to deal with the shortened structure. In our case, multiple Z-plasty were performed, and the fibrotic band was excised until its base with meticulous consideration of the underlying neurovascular bundle. Fascicular shifting technique for sciatic nerve lengthening can be considered in unilateral popliteal pterygium with difficulty extending the knee due to shortened sciatic nerve. The unfavorable outcome of nerve conduction disturbance resulting from the procedure may be multifactorial. Still, the existing foot deformity, including a certain degree of pes equinovarus could be treated by multiple soft tissue reconstructions and adequate rehabilitation to achieve the desired outcome. Conclusion Multiple soft tissue procedures resulted in acceptable functional outcomes. However, the nerve grafting procedure is still a challenging task. Further study is required to explore the technique in optimizing the nerve grafting procedure for popliteal pterygium.

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Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome

Cited by 2 publications

References 8 publications

Identification of SOX18 as a New Gene Predisposing to Congenital Heart Disease

Identification of SOX18 as a New Gene Predisposing to Congenital Heart Disease

Orthopedic Surgical Management of Complicated Congenital Popliteal Pterygium Syndrome: A Case Report

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