Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion
نویسندگان
چکیده
منابع مشابه
Large deletions of the PRKAR1A gene in Carney complex.
PURPOSE Since the identification of PRKAR1A mutations in Carney complex, substitutions and small insertions/deletions have been found in approximately 70% of the patients. To date, no germ-line PRKAR1A deletion and/or insertion exceeded a few base pairs (up to 15). Although a few families map to chromosome 2, it is possible that current sequencing techniques do not detect larger gene changes in...
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autosomal dominant congenital cataract (adcc) is the most common form of inherited cataracts and accounts for one-third of congenital cataracts. heterozygous null mutations in the crystallin genes are the major cause of the adcc. this study aims to detect the mutational spectrum of four crystallin genes, cryba1/a3 , crybb1 , crybb2 and crygd in an iranian family. genomic dna was isolated from w...
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Severe myoclonic epilepsy in infancy (Dravet's syndrome) is a very rare form of epilepsy. Mutations of SCN1A gene encoding voltage-gated sodium channel alpha-1 subunit are major causes of the autosomal dominant disorder. Most cases are associated with a de novo point mutation, but some patients have copy number variations. The protein encoded by the SCN1A gene plays a role in the generation and...
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RATIONALE Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PATIENT CONCERNS A 16-year-old boy was admitted because of excessive weight gain over 3 years and p...
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Background: Here we describe a new case of partial distal 10q trisomy in a 6-year-old Iranian girl from healthy parents with mental, growth, and psychomotor retardations. Methods: Additional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, an...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2017
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2017-01045