A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant [0.03%]
具有MAP3K7变异的新严重心椎手面综合症病例
Hiromi Nyuzuki,Junichi Ozawa,Keisuke Nagasaki et al.
Hiromi Nyuzuki et al.
Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral fusion, congenital heart disease, and...
Novel variant of FBN2 in a patient with congenital contractual arachnodactyly [0.03%]
先天性挛缩蜘蛛指患者中FBN2的新变异体
Mina Nakama,Yuki Miwa,Sayaka Manabe et al.
Mina Nakama et al.
Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Gen...
Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber's hereditary optic neuropathy (LHON) [0.03%]
与Leber遗传性视神经病变中的线粒体功能障碍相关的核基因组的表观遗传调控
Aswathy P Nair,Ambika Selvakumar,Janani Gopalarethinam et al.
Aswathy P Nair et al.
Leber's hereditary optic neuropathy (LHON) is a mitochondrial hereditary disease in which visual loss affects complex 1 activity of the electron transport chain of mitochondria. It first manifests as painless dulling or blurry in one or eve...
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus [0.03%]
患有脑积水的胎儿中的一个重复出现同义词性的L1CAM基因突变
Ivan Šubrt,Tomáš Zavoral,Lukáš Strych et al.
Ivan Šubrt et al.
We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a...
Novel frameshift variant of WNT10A in a Japanese patient with hypodontia [0.03%]
患有缺牙症的日本患者中发现WNT10A新型框移突变
Michiyo Ando,Yoshihiko Aoki,Yasuto Sano et al.
Michiyo Ando et al.
Congenital tooth agenesis is caused by the impairment of crucial genes related to tooth development, such as Wnt signaling pathway genes. Here, we investigated the genetic causes of sporadic congenital tooth agenesis. Exome sequencing, foll...
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A [0.03%]
CACNA1A基因新型错义突变（Leu602Arg）所致的2型发作性共济失调
Shiroh Miura,Emina Watanabe,Kensuke Senzaki et al.
Shiroh Miura et al.
Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA. Cerebellar atrophy was not evident, but single photon emission comp...
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder [0.03%]
具有神经发育障碍的患者中的GJA1罕见镶嵌变异形式
Rina Shimomura,Tomoe Yanagishita,Kumiko Ishiguro et al.
Rina Shimomura et al.
GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing los...
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression [0.03%]
DLG4的新变异导致了伴有智力退化的DLG4相关突触病
Sachi Tokunaga,Hideki Shimomura,Naoko Taniguchi et al.
Sachi Tokunaga et al.
DLG4-related synaptopathy is a neurodevelopmental disorder caused by a DLG4 variant. We identified a novel de novo heterozygous frameshift variant, NM_001321075.3(DLG4):c.554_563del, in a Japanese girl. Intellectual regression without motor...
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1 [0.03%]
NF1和GABBR1基因中三个可能的致病性新生错义变异引起的婴儿痉挛症一例报告
Kazuki Watanabe,Kazuo Kubota,Mitsuko Nakashima et al.
Kazuki Watanabe et al.
Neurofibromatosis type 1 (NF1) is one of the most common hereditary neurocutaneous disorders. Here, we report a unique case of a patient with typical NF1 findings and infantile spasms who had three possibly pathogenic de novo variants, c.35...
Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy [0.03%]
由COL7A1新型变异基因引起的 recessive dystrophic epidermolysis bullosa 伴异源同体会诊
Yo Niida,Azusa Kobayashi,Sumihito Togi et al.
Yo Niida et al.
Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe blistering, wounds, and scarring. In this report, we present a patient with a novel COL7A1 homozygous...