• Molecules and Cells
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• 제38권9호
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• pp.781-788
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• 2015

Mutations of MYO15A are generally known to cause severe to profound hearing loss throughout all frequencies. Here, we found two novel MYO15A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through targeted resequencing of 134 known deafness genes. The variant, p.L1291F and p.Y1945X, resided in the myosin motor and IQ2 domains, respectively. The p.L1291F variant was predicted to affect the structure of the actin-binding site from three-dimensional protein modeling, thereby interfering with the correct interaction between actin and myosin. From the literature analysis, mutations in the N-terminal domain were more frequently associated with residual hearing at low frequencies than mutations in the other regions of this gene. Therefore we suggest a hypothetical genotype-phenotype correlation whereby MYO15A mutations that affect domains other than the N-terminal domain, lead to profound SNHL throughout all frequencies and mutations that affect the N-terminal domain, result in residual hearing at low frequencies. This genotype-phenotype correlation suggests that preservation of residual hearing during auditory rehabilitation like cochlear implantation should be intended for those who carry mutations in the N-terminal domain and that individuals with mutations elsewhere in MYO15A require early cochlear implantation to timely initiate speech development.

• Journal of Genetic Medicine
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• 제5권2호
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• pp.136-138
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• 2008

Townes-Brocks 증후군은 이형성 귀, 청력 상실, preaxial polydactyly, triphalangeal thumbs, 쇄항, 신기형, 선천성 심질환, 정신 지체 등을 동반하는 다기형의 상염색체 우성 유전질환이다. 그러나 갑상선 기능저하증은 Townes-Brocks 증후군의 흔한 특징은 아니다. 현재까지 갑상선 기능저하증과 동반된 Townes-Brocks 증후군은 3례가 보고된 바 있다. 저자들은 한국에서 최초로 갑상선 기능저하증과 동반된 Townes-Brocks 증후군 1례를 보고한다.

• Imaging Science in Dentistry
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• 제50권4호
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• pp.347-351
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• 2020

Mastoid osteomas of the temporal bone are rare, benign, and usually asymptomatic tumors. However, depending on their size and extension, mastoid osteomas may cause facial palsy, a sensation of ear fullness, pressure-related pain, hearing loss, recurrent external ear infections, and chronic discharge. The etiology of mastoid osteomas is still unknown, but congenital, infectious, and traumatic factors have been proposed. Surgical treatment may be performed with minimal postoperative morbidity. In this article, the authors report a case of a 48-year-old woman seeking orthodontic treatment with an unusual retroauricular protruding mass, including the diagnostic process and differential diagnosis. This case supports the essential role of cone-beam computed tomography to analyze and identify the lesion as a mastoid osteoma.

• Neonatal Medicine
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• 제15권1호
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• pp.89-93
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• 2008

염색체 12번 단완의 중복(첨가)는 매우 드문 질환이며 선천성 기형과 발육 장애를 동반하는 것으로 생각된다. 저자들이 경험한 증례는 다발성 이형성 특색과 선천성 기형을 가지고 태어난 남아로 핵형은 46,XY,add(12) (p13.3)이었다. 출생 시 자궁내 성장부진과 소두증, 소하악증, 구개열, 낮은 변형 귀와 같은 비정상 두개 안면소견을 보였으며, 소음경증, 양발의 rocker bottom 변형 소견을 보였다. 추후 확인한 검사에서 심장 및 신장기형, 신경성 난청 등의 다발성 기형을 보였으며 이후 경련성 질환과 발달 지연 소견으로 외래에서 추적 관찰중이다. 염색체 12번의 첨가에 관련된 증례를 경험하였기에 저자들은 문헌고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Pediatric Infection and Vaccine
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• 제24권1호
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• pp.65-70
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• 2017

거대세포바이러스 감염은 선천감염의 가장 흔한 원인 중의 하나이다. 본 증례는 쌍생아에서 다른 임상 양상을 보인 선천 거대세포바이러스 감염 증례에 대한 국내 첫 보고이다. 31세 초산부가 쌍생아(2 융모막, 2 양막)를 임신하였다. 임신 34주 산전 초음파에서 한쪽 태아의 크기가 작고 양측 뇌실 확장증이 발견되었으며 임신 37주경에 제왕절개로 분만하였다. 첫 번째 신생아는 남자로 출생 체중 2,410 g, 아프가 점수 8/9점으로 출생하였으며 두 번째 신생아는 여자로 출생 체중 1,380 g, 아프가점수 5/8점으로 출생하였다. 두 번째 신생아는 자궁 내 성장지연, 소두증, 소하악증, 사지 관절의 강직을 보였다. 불일치 쌍생아에 대한 원인을 찾기 위한 검사를 진행하였으며 두 번째 신생아의 혈액검사에서 거대세포바이러스 immunoglobulin M이 양성반응을 보였으며 소변과, 혈액, 뇌척수액에서 거대세포바이러스 중합효소연쇄반응이 양성소견을 보였다. 반면에 정상으로 출생한 남아의 거대세포바이러스에 대한 검사는 모두 음성이었다. 감염된 환자의 안과적 검진에서 거대세포바이러스 망막염이 관찰되었고, 후에 실시한 청력검사에서 양측의 감음 난청이 확인되었다. 환자는 ganciclovir 치료를 받았으며 현재 여아는 심한 발달지연이 있으며 침대에서 누워서 생활하는 중이다. 이와 같이 쌍생아에서의 선천 거대세포 바이러스 감염증이 한 명에게만 발생하는 경우의 원인은 현재까지 명확하지 않다. 하지만 이 증례를 통하여 심한 불일치 쌍생아의 경우에 선천 거대세포바이러스 감염의 가능성을 고려해 보아야 한다.

• Clinical and Experimental Pediatrics
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• 제59권1호
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제15권2호
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• pp.91-99
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• 2012

Purpose: The aims of this study was to compare and evaluate the clinical characteristics, laboratory data, and prognosis for infants under age 1 year with CMV hepatitis and those with viral hepatitis of unknown etiology. Methods: A retrospective study was conducted of infants under age 1 year who were admitted with acute hepatitis. The exclusion criteria consisted of: autoimmune, genetic, metabolic, toxic, HAV, HBV, HCV, toxoplasma, rubella, herpes simplex, and Epstein-Barr virus. The 30 patients included were divided into two groups based on markers for CMV (IgM anti-CMV, CMV PCR in urine, CMV culture in urine). Results: The median age of patients (n=15) was 2.8 months. No other organ involvement was detected in any patient. Peak serum total bilirubin levels (n=4) ranged from 2.6 to 6.7 mg/dL. Peak serum ALT levels ranged from 51 to 1,581 IU/L. The duration of ALT elevation ranged from 1.5 weeks to 26 weeks (median 9 weeks). All had recovered in full without ganciclovir; there were no cases of hearing loss. The median age of controls (n=15) was 2.5 months. Peak serum total bilirubin levels (n=4) ranged from 1.6 to 9.1 mg/dL. Peak serum ALT levels ranged from 26 to 1,794 IU/L. No significant differences were observed between both groups regarding the peak serum ALT levels, peak serum total bilirubin levels, duration of hyperbilirubinemia and ALT elevation. Conclusion: Although it was not possible to differentiate congenital infection with perinatal infection in this study, the prognosis of patients with CMV hepatitis without other organ involvement was good without ganciclovir treatment.

• Neonatal Medicine
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• 제15권2호
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• pp.200-206
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• 2008

안면 기형, 삼각두, 뇌량 무형성, 감각 신경성 난청, 시각장애, 심기형, 심근병증, 폐동맥 고혈압, 배꼽 탈장과 생식기 기형이 있는 환아에게 동반된 9번 염색체 단완이질염색질 부위의 첨가를 발견하여 9번 염색체 p13 부위의 첨가와 연관된 다발성 기형의 발생을 보고하는 바이다.

• Pediatric Infection and Vaccine
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• 제5권2호
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• pp.283-288
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• 1998

Recurrent meningitis in children is not only a potentially life threatening condition, but often involves the child in the trauma though repeated hospital admissions and multiple invasive investigations to find the underlying causes. Symptoms and signs of CSF rhinorrhea or otorrhea are infrequent in these patients and difficult to diagnose in young children. All young children treated for meningitis should then be administered an evoked potential audiometry as a post-treatment test. If sensorineural hearing loss is identified, the clinician should be alerted to the possibility of CSF leakage as the cause of the meningitis. Radiologic studies should be performed to rule out preexisting congenital, or acquired, abnormalities requiring surgical exploration. Two young children with recurrent meningitis due to a right cochlear aplasia and a cribriform plate defect caused by trauma are presented to illustrate the problems of diagnosis and management. A review of literatures will also be presented briefly.