BACKGROUND: Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the skin and hair. Variants in the sex-determining region Y-box containing gene 10 (SOXl0) gene may cause congenital deafness and have been demonstrated to be important during the development of WS2.
METHODS: Complete clinical data of the proband and her family members (her parents and 2 sisters) was collected and physical examinations were performed in the hospital. The laboratory examination including hemoglobin, Coomb\'s test, urine protein, ENA, autoimmune hepatitis-related autoantibodies and ultrasonography were all conducted. We obtained the peripheral blood samples from all the participants and performed whole exome sequencing and sanger sequencing validation.
RESULTS: The present study identified a family of 5 members, and only the proband exhibited typical WS2. Beyond the characteristics of WS2, the proband also manifested absence of puberty. The proband and her younger sister manifested systemic lupus erythematosus (SLE). Whole exome sequencing revealed a de novo variant in the SOX10 gene. The variant c.175 C > T was located in exon 2 of the SOX10 gene, which is anticipated to result in early termination of protein translation.
CONCLUSIONS: The present study is the first to report a case of both WS2 and SLE, and the present findings may provide a new insight into WS2.

暂无摘要。

Waardenburg\'s syndrome involves deafness accompanied by various visual difficulties. The role of twins in identifying this disorder and advancing understanding of its origins and symptoms is described, beginning in 1916 and continuing to the present. This overview is followed by current research on monozygotic (MZ) twins\' different dermatoglyphic features, twins with sagittal suture crainosynostosis, blood pressure in female twins, and MZ twins\' education and political knowledge. The final section presents media reports describing controversies surrounding twins created by reciprocal in vitro fertilization, reared-apart triplets\' limited TV series, abducted twin infants, the Winkelvoss twins\' charges by the Securities and Exchange Commission, and going from \'Me\' to \'We\'.

Hypogonadotropic hypogonadism (HH) is a disease defined by dysfunction of the hypothalamic- pituitary-gonadal hormone axis, leading to low sex hormone levels and impaired fertility. HH with anosmia or hyposmia is known as Kallmann syndrome (KS). Waardenburg syndrome (WS) is a rare autosomal dominant genetic disorder characterized by sensorineural hearing loss and abnormal pigmentation. In this report, we collected the clinical data of a patient with hypogonadotropic hypogonadism and congenital hearing loss of unknown cause. The patient had no obvious secondary sexual characteristics development after puberty, and had a heterozygous deletion (at least 419 kb) in 22q13.1 region (Chr.22:38106433-38525560), which covered the SOX10 gene. The abnormalities were not found in gene sequencing analysis of both the parents and sister of the proband. By summarizing and analyzing the characteristics of this case, we further discussed the molecular biological etiological association between HH and WS type 2. This case also enriches the clinical data of subsequent genetic studies, and provides a reference for the diagnosis and treatment of such diseases.
低促性腺激素性性腺功能减退症(hypogonadotropic hypogonadism, HH)是以下丘脑-垂体-性腺激素轴功能障碍为主要特征的一类疾病，可致性激素水平低和生育能力受损。伴随嗅觉丧失/减退的HH被称为Kallmann综合征(Kallmann syndrome, KS)。Waardenburg综合征(Waardenburg syndrome, WS)是一种罕见的常染色体显性遗传病，以感音神经性听力损失以及色素沉着异常为主要特征。本研究收集1例不明原因的低促性腺激素性性腺功能减退和先天性耳聋患者的临床资料，该患者进入青春期后无明显第二性征发育，在22q13.1区域(Chr.22:38106433-38525560)存在杂合缺失，至少419 kb，此区域覆盖了SOX10基因。患者父母、妹妹基因测序分析未见异常。通过总结分析该病例特点，分析探讨低促性腺激素性性腺功能减退症与Waardenburg综合征2型在分子生物学上的病因关联，丰富后续遗传学研究的临床资料，同时为此类疾病的诊疗措施提供参考。.

暂无摘要。

UNASSIGNED: Waardenburg syndrome (WS) is a rare genetic disorder that presents with clinical characteristics such as white forelock, congenital deafness, dystopia canthorum, and heterochromia iridis. It is mostly transmitted through an autosomal dominant mode, with a few genetic mutations. Children with WS often require surgical intervention at an early age and may have a difficult airway, which can be challenging for anesthesiologists.
UNASSIGNED: We report the anesthetic management during cochlear implantation in a 14-month-old girl with WS who weighed 9 kg. In addition to hearing loss and delayed speech, she presented with motor developmental delay, chewing and swallowing impairments, and dietary bucking. Resistance was encountered during tracheal intubation after anesthesia induction, and the tracheal tube was successfully intubated after rotation.
UNASSIGNED: We report the anesthetic management during cochlear implantation in a child with WS, briefly describe the research advances related to WS, and discuss the optimization of the perioperative management of these children, including airway management, anesthesia-related complications, and the use of anesthetics.

Background: Waardenburg syndrome (WS) is a rare genetic disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities of the hair, skin and eyes. However, exotropia is rarely reported. The purpose of this study is to describe the clinical characteristics of three sporadic patients with WS and congenital exotropia and to investigate the disease-causing genes for them. Methods: Patients underwent detailed physical and ocular examinations. Ocular alignment and binocular status were evaluated. DNA was extracted and whole exome sequencing was performed to detect the pathogenic variations in the disease-causing genes for WS. Cloning sequencing was carried out for those indel variations. Results: Three unrelated patients were diagnosed with Waardenburg syndrome and congenital exotropia. Four novel variants, including c.136delA (p.I46Sfs*64) and c.668G>T (p.R223L) in PAX3, c.709dupC (p.Q237Pfs*119) in COL11A2, c.426G>A (p.W142X) in SOX10 gene, were detected in this study. Conclusion: Simultaneous presence of congenital exotropia and WS in our patients is suggested that WS could be involved in malfunction in the multiple nerve systems. Our genetic study will expand the mutation spectrum of PAX3, COL11A2 and SOX10 genes, and is helpful for further study on the molecular pathogenesis of WS.

暂无摘要。

BACKGROUND: Waardenburg syndrome is an autosomal dominant disorder with varying degrees of sensorineural hearing loss as well as abnormal pigmentation in hair, skin, and iris. There are four types of Waardenburg syndrome (1-4) with different characteristics. Mutations in six genes have been identified to be associated with the various types. Herein, we describe a case of Waardenburg syndrome type 4 combined with open-angle glaucoma.
METHODS: A 43-year-old Han Chinese man had undergone trabeculectomy due to progression of visual field impairment and unstable intraocular pressure in both eyes. Slit-lamp examination revealed diffuse iris hypopigmentation in the left eye and hypopigmentation of part of the iris in the right eye. Fundus examination showed red, sunset-like fundus due to a lack of pigmentation in the retinal pigment epithelium layer, diffuse loss of the nerve fiber layer, and an excavated optic nerve head with advanced-stage glaucoma. Imaging was performed using anterior segment optical coherence tomography to detect the iris configuration. In the heterochromic iris portion, the normal part of the iris showed a clear hyperreflective signal of the anterior border layer, while atrophy of the pigmented anterior border layer showed a hyporeflective area of the anterior surface resulting in reduced light absorption. Two mutations of the endothelin receptor type B gene were recognized in this study. The first (c.1111G>A on exon 7) leads to an amino acid change from glycine to serine at codon 371. Sanger verification revealed that this mutation is inherited from the mother. The other mutation (c.553G>A) leads to an amino acid change from valine to methionine at codon 185. Sanger verification showed that this mutation was inherited from the father.
CONCLUSIONS: Waardenburg syndrome shows a remarkable diversity in clinical presentation and morphology. This disease can also present with open-angle glaucoma. Sequencing analysis revealed two heterozygous mutations in the EDNRB gene in this patient, inherited from his mother and father, respectively. These two sites constitute a compound heterozygous variation.

Waardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1-4, and these are characterized by heterochromia iridis, white forelock, prominent nasal root, dystopia canthorum, hypertrichosis of the medial part of the eyebrows, and deaf-mutism. WS3 is extremely rare, with a unique phenotype (upper limb abnormality). Heterozygous mutations of PAX3 are commonly associated with WS1, whereas partial or total deletions of PAX3 are often observed in WS3 cases. Deletions, together with insertions, translocations, inversions, mobile elements, tandem duplications, and complexes, constitute structural variants (SVs), which can be fully and accurately detected by third-generation sequencing (TGS), a new generation of high-throughput DNA sequencing technology. In this study, after failing to identify the causative gene by Sanger sequencing, SNP-array, and whole-exome sequencing (WES), we finally detected a heterozygous gross deletion of PAX3 (10.26kb, chr2: 223153899-223164405) in a WS family by TGS. Our description would enrich the genetic map of WS and help us to further understand this disease. Our findings also demonstrated the value of TGS in clinical genetics researches.