Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature [0.03%]
一个患有非综合征性矮小症家系的亚微缺失(16q24.2-q24.3)
Chisato Narita,Hidekazu Utsunomiya,Junpei Hamada et al.
Chisato Narita et al.
Array-based comparative genomic hybridization for a boy, his mother and his half-sister with etiology-unknown nonsyndromic short stature identified a hitherto unreported heterozygous ~1.5-Mb deletion at 16q24.2-q24.3. Whole-exome sequencing...
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population [0.03%]
日本普通人群BRCA1/BRCA2致病突变的再分析
Tasuku Mariya,Masashi Idogawa,Tsuyoshi Saito et al.
Tasuku Mariya et al.
Recently, the Tohoku Medical Megabank Organization released whole-genome allele frequencies of single-nucleotide variants and indels from approximately 60,000 individuals from the general Japanese population in the Tohoku region (60KJPN). H...
Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations [0.03%]
中国儿童低磷血症患者ALPL基因两个新突变型导致的婴儿低磷性佝偻病
Wenjuan Li,Shujing Zeng,Jun Jiang et al.
Wenjuan Li et al.
Here we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient's ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G>T; pathogen...
DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome [0.03%]
Rubinstein-Taybi综合征的日本患者的DNA甲基化数据
Tomoko Kawai,Taiga Aoki,Kazuhiko Nakabayashi et al.
Tomoko Kawai et al.
An episignature is a genome-wide DNA methylation pattern that is specific to each syndrome or etiologic gene. Episignature analysis helps to diagnose patients with variants of uncertain significance (VUS), but this requires positive methyla...
A novel PKD1 variant in a patient with very-early-onset ADPKD [0.03%]
致病性PKD1新变异导致极早发常染色体显性多囊肾病患者的肾脏和肝脏受累
Tomomi Kondoh,Takuma Ando,Yuji Matsumoto et al.
Tomomi Kondoh et al.
Mitsuhiko Riko,Daiki Kawamoto,Kentaro Hirayama et al.
Mitsuhiko Riko et al.
Fontaine progeroid syndrome (FPS) is a rare condition characterized by abnormalities in SLC25A24. Some instances of FPS have been reported to be fatal early in life. Here we present the first case of mitochondrial disease diagnosed with FPS...
A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family [0.03%]
巴基斯坦一个家系中DST同合子变异导致的遗传性感觉和自主神经病
Asad Munir,Helen Nabiryo Frederiksen,Fawad Ali et al.
Asad Munir et al.
Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feedin...
Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome [0.03%]
CPAMD8双等位基因变异与并发全身马凡综合征样表现的晶状体脱位患者的遗传相关性研究
Daiju Oba,Mariko Sagara,Sayuri Oda et al.
Daiju Oba et al.
Here we report an 18-year-old male patient with bilateral ectopia lentis and biallelic CPAMD8 variants (NM_015692.5:c.[2801delG];[4552C>T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]). He exhibited previously unreported extraocular f...
Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly [0.03%]
MED13变异相关疾病中的线粒体功能障碍一例婴儿痉挛、心肌病和肝大的病例报告
Mizuki Harada,Takanori Onuki,Hiromi Nyuzuki et al.
Mizuki Harada et al.
Here we report a de novo heterozygous MED13 variant (c.2503C>T, p.Pro835Ser) in an infant presenting with infantile spasms, hypertrophic cardiomyopathy and hepatomegaly. Autopsy revealed mitochondrial abnormalities in cardiac and hepatic ti...
Biallelic MINAR2 variant is associated with nonsyndromic severe to profound sensorineural hearing loss [0.03%]
MINAR2双等位基因变异与非综合征性重度至极重度感音神经聋相关
Naif A M Almontashiri
Naif A M Almontashiri
MINAR2 is essential for normal hearing by regulating cholesterol localization in stereocilia in hair cells. MINAR2 knockout results in rapidly progressive sensorineural hearing loss (SNHL) in mice and zebrafish models. Recently, biallelic v...