Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome

Autor:	L-J C, Wong, Y-H, Lin, P, Suwannarat, C-H, Hsu, H-Y, Kwon, S, Mackowiak
Rok vydání:	2005
Předmět:	Adult Extracellular Matrix Proteins DNA Mutational Analysis Disorders of Sex Development Optic Atrophy Hereditary Leber Denys-Drash Syndrome DNA Mitochondrial Polymerase Chain Reaction Pedigree Intellectual Disability Karyotyping Humans Abnormalities Multiple Female
Zdroj:	Clinical genetics. 67(3)
ISSN:	0009-9163
Popis:	We describe a 20-year-old 46,XY woman, with clinical findings of Fraser syndrome and three mitochondrial DNA (mtDNA) mutations of Leber hereditary optic neuropathy. The patient had microphthalmia, blindness, widely spaced nipples, bifid ureter, syndactyly of the toes, and mental retardation. Sonography showed the presence of a uterus and intra-abdominal gonads. The proband was screened for mtDNA mutations because of chronic gastrointestinal pseudo-obstruction, urinary tract dysmotility, seizures, mental retardation and persistent macrocytosis, as well as the intermittent elevation of methylmalonic acid. Analysis of point mutations by multiplex polymerase chain reaction and allele-specific oligonucleotide dot-blot hybridization revealed three homoplasmic mtDNA mutations, T14484C, T4216C, and T3394C. This represents a unique case with sex reversal, Fraser-like syndrome, and mitochondrial disease.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::52ccbacb96eae6177a1e86bfb61c5ed9 https://pubmed.ncbi.nlm.nih.gov/15691363 Zobrazit plný text záznamu Plný text