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A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities.
Mol Syndromol
July 2022
Pediatric İntensive Care Unit, Faculty of Medicine, Mersin University, Mersin, Turkey.
Introduction: Sandestig-Stefanova syndrome is an autosomal recessive developmental syndrome characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis. This syndrome is caused by biallelic loss-of-function mutations in the gene.
Case Presentation: In the physical examination of our patient, whose mother and father were third-degree relatives, hypotonia, bilateral congenital cataracts, ambiguous genitalia, hypospadias, undescended testis, and facial dysmorphic findings (hypertelorism, high palate, micrognathia, microphthalmia, low-set ears) were detected.
Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning.
Cell Death Dis
November 2020
Clinical and Translational Research Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 201204, Shanghai, China.
Defective left-right (LR) organization involving abnormalities in cilia ultrastructure causes laterality disorders including situs inversus (SI) and heterotaxy (Htx) with the prevalence approximately 1/10,000 births. In this study, we describe two unrelated family trios with abnormal cardiac LR patterning. Through whole-exome sequencing (WES), we identified compound heterozygous mutations (c.
View Article and Find Full Text PDFBi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Am J Hum Genet
May 2020
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA. Electronic address:
Nucleoporins (NUPs) are an essential component of the nuclear-pore complex, which regulates nucleocytoplasmic transport of macromolecules. Pathogenic variants in NUP genes have been linked to several inherited human diseases, including a number with progressive neurological degeneration. We present six affected individuals with bi-allelic truncating variants in NUP188 and strikingly similar phenotypes and clinical courses, representing a recognizable genetic syndrome; the individuals are from four unrelated families.
View Article and Find Full Text PDFBiallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
Mol Syndromol
January 2020
Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden.
There is no clearly established association between the gene and human pathology. Only a few reports of patients with different clinical presentation and different heterozygous or compound heterozygous missense or splice region variants have been identified in several sequencing projects; however, a causative association between the clinical features and the identified variants has not been established. For the first time, we report 2 unrelated patients with 2 different homozygous nonsense gene variants of , p.
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