A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
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چکیده
منابع مشابه
A homozygous mutation in MSH6 causes Turcot syndrome.
Heterozygous mutations in one of the DNA mismatch repair genes cause hereditary nonpolyposis colorectal cancer (MIM114500). Turcot syndrome (MIM276300) has been described as the association of central nervous system malignant tumors and familial colorectal cancer and has been reported to be both a dominant and recessive disorder. Homozygous and compound heterozygous mutations in APC, MLH1, MSH2...
متن کاملCompound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential...
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H utchinson-Gilford progeria syndrome (HGPS; MIM 176670) is an extremely rare genetic disorder displaying features reminiscent of premature senescence. 2 Typically, affected children appear normal at birth, but begin to develop characteristic symptoms within the first years of life such as failure to thrive, alopecia, lipodystrophy, and scleroderma-like skin changes. Though the first HGPS cases...
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We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and gene...
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ژورنال
عنوان ژورنال: npj Genomic Medicine
سال: 2017
ISSN: 2056-7944
DOI: 10.1038/s41525-017-0024-5