Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients.
Mol Biol Rep
; 49(5): 3911-3918, 2022 May.
Article
in En
| MEDLINE
| ID: mdl-35229241
ABSTRACT
BACKGROUND:
Several metabolic disorders follow an autosomal recessive inheritance pattern. Epidemiological information on these disorders is usually limited in developing countries. Our objective is to assess carrier frequencies of rare autosomal recessive metabolic diseases in a cohort of Brazilian patients that underwent molecular investigation with exome sequencing and estimate the overall frequency of these diseases using the Hardy-Weinberg equation. METHODS ANDRESULTS:
We reviewed the molecular findings of 320 symptomatic patients who had carrier status for recessive diseases actively searched. A total of 205 rare variants were reported in 138 different genes associated with metabolic diseases from 156 patients, which represents that almost half (48.8%) of the patients were carriers of at least one heterozygous pathogenic/likely pathogenic (P/LP) variant for rare metabolic disorders. Most of these variants are harbored by genes associated with multisystemic involvement. We estimated the overall frequency for rare recessive metabolic diseases to be 10.96/10,000 people, while the frequency of metabolic diseases potentially identified by newborn screening was estimated to be 2.93/10,000.CONCLUSIONS:
This study shows the potential research utility of exome sequencing to determine carrier status for rare metabolic diseases, which may be a possible strategy to evaluate the clinical and social burden of these conditions at the population level and guide the optimization of health policies and newborn screening programs.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Metabolic Diseases
Type of study:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
/
Newborn
Country/Region as subject:
America do sul
/
Brasil
Language:
En
Journal:
Mol Biol Rep
Year:
2022
Document type:
Article
Affiliation country: