TY - JOUR
T1 - Non-syndromic Oculocutaneous Albinism
T2 - Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort
AU - Schidlowski, Laire
AU - Liebert, Fernando
AU - Iankilevich, Pérola Grupenmacher
AU - Rebellato, Priscila Regina Orso
AU - Rocha, Rafaela Andrade
AU - Almeida, Nadia Aparecida Pereira
AU - Jain, Aayushee
AU - Wu, Yiming
AU - Itan, Yuval
AU - Rosati, Roberto
AU - Prando, Carolina
N1 - Publisher Copyright:
© Copyright © 2020 Schidlowski, Liebert, Iankilevich, Rebellato, Rocha, Almeida, Jain, Wu, Itan, Rosati and Prando.
PY - 2020/4/28
Y1 - 2020/4/28
N2 - Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes and one chromosomal region. Because OCA subtypes are not always clinically distinguishable, molecular analysis has become an important tool for classifying types of OCA, which facilitates genetic counseling and can guide the development of new therapies. We studied eight Brazilian individuals aged 1.5–18 years old with clinical diagnosis of OCA. Assessment of ophthalmologic characteristics showed results consistent with albinism, including reduced visual acuity, nystagmus, and loss of stereoscopic vision. We also observed the appearance of the strabismus and changes in static refraction over a 2-year period. Dermatologic evaluation showed that no participants had preneoplastic skin lesions, despite half of the participants reporting insufficient knowledge about skin care in albinism. Whole-exome and Sanger sequencing revealed eight different mutations: six in the TYR gene and two in the SLC45A2 gene, of which one was novel and two were described in a population study but were not previously associated with the OCA phenotype. We performed two ophthalmological evaluations, 2 years apart; and one dermatological evaluation. To the best of our knowledge, this is the first study to perform clinical follow-up and genetic analysis of a Brazilian cohort with albinism. Here, we report three new OCA causing mutations.
AB - Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes and one chromosomal region. Because OCA subtypes are not always clinically distinguishable, molecular analysis has become an important tool for classifying types of OCA, which facilitates genetic counseling and can guide the development of new therapies. We studied eight Brazilian individuals aged 1.5–18 years old with clinical diagnosis of OCA. Assessment of ophthalmologic characteristics showed results consistent with albinism, including reduced visual acuity, nystagmus, and loss of stereoscopic vision. We also observed the appearance of the strabismus and changes in static refraction over a 2-year period. Dermatologic evaluation showed that no participants had preneoplastic skin lesions, despite half of the participants reporting insufficient knowledge about skin care in albinism. Whole-exome and Sanger sequencing revealed eight different mutations: six in the TYR gene and two in the SLC45A2 gene, of which one was novel and two were described in a population study but were not previously associated with the OCA phenotype. We performed two ophthalmological evaluations, 2 years apart; and one dermatological evaluation. To the best of our knowledge, this is the first study to perform clinical follow-up and genetic analysis of a Brazilian cohort with albinism. Here, we report three new OCA causing mutations.
KW - SLC45A2
KW - TYR
KW - exome
KW - melanogenesis
KW - oculocutaneous albinism
KW - sequencing
UR - http://www.scopus.com/inward/record.url?scp=85084503671&partnerID=8YFLogxK
U2 - 10.3389/fgene.2020.00397
DO - 10.3389/fgene.2020.00397
M3 - Article
AN - SCOPUS:85084503671
SN - 1664-8021
VL - 11
JO - Frontiers in Genetics
JF - Frontiers in Genetics
M1 - 397
ER -