OBJECTIVE: To explore the clinical and genetic characteristics of fetuses with Kabuki syndrome (KS) and their genotype-phenotype correlation. METHODS: A retrospective analysis was carried out on the prenatal manifestations and results of genetic testing of six KS fetuses diagnosed by whole-exome sequencing (WES). The findings were compared with 28 prenatally diagnosed KS cases reported in the literature to summarize the prenatal features of KS. This study has been approved by the Ethics Committee of Maternal and Child Health Care Hospital of Hubei Province (Ethics No.: 2025-141-01). RESULTS: Prenatal ultrasound findings in KS fetuses showed high heterogeneity. The most common abnormalities were cardiac (23/35, 65.7%) and renal (20/35, 57.1%), which are often accompanied by amniotic fluid abnormalities (5/35, 14.3%), single umbilical artery (5/35, 14.3%), and fetal hydrops (4/35, 11.4%). Among the six fetuses from our center, all were identified by WES to harbor pathogenic variants of the KMT2D gene, and all of which were de novo. These included 3 frameshift variants, 2 nonsense variant, and 1 missense variant, among which 4 were unreported previously. CONCLUSION This study has expanded the mutational spectrum of the KMT2D gene. Prenatal ultrasound findings of KS lack specificity, though multi-system anomalies or specific soft markers may indicate KS. WES is an effective tool for the diagnosis, and KS should be included in the differential diagnosis list for prenatal cardiac and renal abnormalities.
Humans ; Hematologic Diseases/diagnostic imaging* ; Face/diagnostic imaging* ; Female ; Vestibular Diseases/diagnostic imaging* ; Abnormalities, Multiple/diagnostic imaging* ; Pregnancy ; Ultrasonography, Prenatal ; Adult ; Neoplasm Proteins/genetics* ; Retrospective Studies ; DNA-Binding Proteins/genetics* ; Male ; Exome Sequencing ; Fetus/diagnostic imaging* ; Genetic Association Studies ; Mutation

OBJECTIVE: To explore the feasibility and superiority of the gene chip method and temporal bone CT in diagnosis of large vestibular aqueduct syndrome. METHOD: One hundred and eighty-eight cases of deaf students in Guangzhou were selected,the microarray detection of the SLC26A4 gene locus was performed,and the 26 cases of students with detected SLC26A4 gene mutations received temporal bone CT imaging. RESULT: Among the detected 26 cases of patients with hearing loss, IVS7-2A>G homozygous mutation was found in 7 cases, 17 cases were heterozygous mutation, 2168A>G heterozygous mutation presented in three cases, including one case of IVS7-2A>G and 2168A>G compound heterozygous mutations. Temporal bone CT findings of 25 cases among the 26 patients showed bilateral large vestibular aqueduct,among which 9 cases exhibited bilateral cochlear malformations, and 1 case was normal. CONCLUSION Among the different SLC26A4 gene mutations, IVS7-2A>G point mutation rates the highest, followed by 2168A>G. Most of the CT examination prompted the expansion of the vestibular aqueduct. Deafness gene chip hotspot detection of SLC26A4 gene mutations can diagnose such patients before CT examination,which can be used for screening people with high risk of deafness prenatal screening. The early detection and early diagnosis can guide proper precautionary measures in advance to prevent the occurrence of prelingual deafness.
Adolescent ; Child ; Female ; Hearing Loss, Sensorineural ; diagnosis ; diagnostic imaging ; Humans ; Male ; Membrane Transport Proteins ; genetics ; Mutation ; Oligonucleotide Array Sequence Analysis ; Sulfate Transporters ; Tomography, X-Ray Computed ; Vestibular Aqueduct ; abnormalities ; diagnostic imaging ; Vestibular Diseases ; diagnosis ; diagnostic imaging

OBJECTIVE: To explore the disease incidence, clinical symptoms, prevention and treatment measures of the large vestibular aqueduct syndrome (LVAS). METHOD: Retrospective analyse the medical history, hearing, vestibular function examination and treatment of 76 LVAS patients who were diagnosed in our department of Otolaryngology from 2002 to 2008. RESULT: Most patients (93.4%) showed sensorineural hearing loss. Part of patients (61.8%) showed air-bone conduction gap in low frequency. The hearing loss of 43 ears is > 40-60 dB HL, > 60 -80 dB HL 47 ears, > 80 dB HL 62 ears. Decline curve is the characteristic of the Audiogram. The decline in high-frequency 112 ears, flat curve in 29 ears, island hearing in 11 ears. Forty-six patients were conducted the vestibular function examination, which showed low vestibular function. Tympanogram showed that 141 ears are type A, 11 ears are type C. High-resolution CT scan revealed that vestibular aqueduct minimum diameter is 2.2 mm and the largest is 6.2 mm, with a wide opening and deep narrower, and showed the "triangle" or "flared". Forty-two cases of this group were simple dilatation of the vestibular aqueduct, and no large vestibular semicircular canal malformation or cochlear malformation. There was no intellectual and other development disorders. In accordance with the degree of hearing loss, 20 cases of patients restored hearing after drug treatment. Eleven were cases fit a suitable hearing aid and carried out the language rehabilitation training. Forty-five very severe patients were implanted the cochlear and mapping one month later. CONCLUSION Fluctuative and progressive hearing loss is the main clinical symptoms of large vestibular aqueduct syndrome. The patients should be examined by high resolution CT scan of the temporal bone. There is no precise and effective treatment for the disease. It is very important for the deaf children who have residual hearing to fit hearing aids and carry out the language rehabilitation training as soon as possible. As for the patients who suffer from hearing loss severely and the hearing aid cannot achieve effective compensation, the cochlear implant should be considered.
Adolescent ; Child ; Child, Preschool ; Female ; Hearing Loss ; diagnosis ; therapy ; Humans ; Male ; Retrospective Studies ; Syndrome ; Temporal Bone ; diagnostic imaging ; Tomography, X-Ray Computed ; Vestibular Aqueduct ; physiopathology ; Vestibular Diseases ; diagnosis ; diagnostic imaging ; therapy ; Young Adult