Molecular genetics and metabolism reports · 2026
Molecular characterization of Alkaptonuria in Brazilian patients.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Moreno Carolina Araújo, de Oliveira Sobrinho Ruy Pires, Jorente Josep, Appenzeller Simone, Meira Nelma Gláucia Silva, Costa Lucas Cadete Caldeira, Acosta Angelina Xavier, Brazilian Rare Genomes Project Consortium, Guaragna Mara Sanches, Steiner Carlos Eduardo
Аннотация
OBJECTIVE: Alkaptonuria is a rare inborn error of metabolism, with few reports from Brazil and typically lacking genotype descriptions in the Brazilian population.
METHODS: A retrospective study of clinical and molecular data of individuals with alkaptonuria submitted to whole genome sequencing.
RESULTS: Five individuals from four unrelated families were enrolled, with ages ranging from 8 months to 61 years at first evaluation and currently ranging from 26 to 65 years. All presented a history of dark urine since infancy and accentuated elevation of homogentisic acid excretion in urine samples. In two consanguineous families from the State of Bahia, the c.847 A > T and c.899 T > G variants were identified in homozygous status in the HGD gene; one of the individuals also had a history of infertility and presented the homozygous c.537 + 1G > A variant in the STX2 gene. The two remaining families without consanguinity, both from the State of São Paulo, presented with a combination of the heterozygous variants c.508G > A and c.899 T > G in one individual, and deletion of exon 13 of the HGD gene in trans with the c.1007-172 A > G deep intronic variant as a possible causative variant in another patient.
CONCLUSIONS: Although small, the present series represents the first cohort of Brazilian individuals with alkaptonuria investigated by genomic sequencing, identifying a common variant (c.899 T > G) in two families and three exonic and one deep intronic variant in the HGD gene, besides a possible double diagnosis comprising infertility due to a homozygous variant of uncertain significance in the STX2 gene.
METHODS: A retrospective study of clinical and molecular data of individuals with alkaptonuria submitted to whole genome sequencing.
RESULTS: Five individuals from four unrelated families were enrolled, with ages ranging from 8 months to 61 years at first evaluation and currently ranging from 26 to 65 years. All presented a history of dark urine since infancy and accentuated elevation of homogentisic acid excretion in urine samples. In two consanguineous families from the State of Bahia, the c.847 A > T and c.899 T > G variants were identified in homozygous status in the HGD gene; one of the individuals also had a history of infertility and presented the homozygous c.537 + 1G > A variant in the STX2 gene. The two remaining families without consanguinity, both from the State of São Paulo, presented with a combination of the heterozygous variants c.508G > A and c.899 T > G in one individual, and deletion of exon 13 of the HGD gene in trans with the c.1007-172 A > G deep intronic variant as a possible causative variant in another patient.
CONCLUSIONS: Although small, the present series represents the first cohort of Brazilian individuals with alkaptonuria investigated by genomic sequencing, identifying a common variant (c.899 T > G) in two families and three exonic and one deep intronic variant in the HGD gene, besides a possible double diagnosis comprising infertility due to a homozygous variant of uncertain significance in the STX2 gene.