SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies

Lucia Mauri, Luca Barone, Muna Al Oum, Alessandra Del Longo, Elena Piozzi, Emanuela Manfredini, Franco Stanzial, Francesco Benedicenti, Silvana Penco, Maria Cristina Patrosso

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Background: Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes.OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair, blue irides and nystagmus to brown/black hair, brown irides and no nystagmus. The high clinic variety often leads to misdiagnosis.Our aim is to contribute to OCA4 diagnosis defining SLC45A2 genetic variants in Italian patients with OCA without any TYR, OCA2 and TYRP1 gene defects. Materials and methods: After the clinical diagnosis of OCA, all patients received genetic counseling and genetic test. Automatic sequencing of TYR, OCA2, and TYRP1 genes was performed on DNA of 117 albino patients. Multiplex Ligation-dependent Probe Amplification (MLPA) was carried out on TYR and OCA2 genes to increase the mutation rate. SLC45A2 gene sequencing was then executed in the patients with a single mutation in one of the TYR, OCA2, TYRP1 genes and in the patients, which resulted negative at the screening of these genes. Results: SLC45A2 gene analysis was performed in 41 patients and gene alterations were found in 5 patients. Four previously reported SLC45A2 mutations were found: p.G100S, p.W202C, p.A511E and c.986delC, and three novel variants were identified: p.M265L, p.H94D, and c.1156+1G>A. All the alterations have been detected in the group of patients without mutations in the other OCA genes. Conclusions: Three new variants were identified in OCA4 gene; the analysis allowed the classification of a patient previously misdiagnosed as OA1 because of skin and hair pigmentation presence. The molecular defects in SLC45A2 gene represent the 3.4% in this cohort of Italian patients, similar to other Caucasian populations; our data differ from those previously published by an Italian researcher group, obtained on a smaller cohort of patients.

Original languageEnglish
Pages (from-to)398-402
Number of pages5
JournalGene
Volume533
Issue number1
DOIs
Publication statusPublished - Jan 1 2014

Fingerprint

Oculocutaneous Albinism
Mutation Rate
Genes
Hair
Mutation
Iris
Diagnostic Errors
Hair Diseases
Skin Pigmentation
Eye Diseases
Multiplex Polymerase Chain Reaction
Genetic Counseling

Keywords

  • Albinism
  • Novel variants
  • OCA4
  • SLC45A2

ASJC Scopus subject areas

  • Genetics

Cite this

Mauri, L., Barone, L., Al Oum, M., Del Longo, A., Piozzi, E., Manfredini, E., ... Patrosso, M. C. (2014). SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. Gene, 533(1), 398-402. https://doi.org/10.1016/j.gene.2013.09.053

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. / Mauri, Lucia; Barone, Luca; Al Oum, Muna; Del Longo, Alessandra; Piozzi, Elena; Manfredini, Emanuela; Stanzial, Franco; Benedicenti, Francesco; Penco, Silvana; Patrosso, Maria Cristina.

In: Gene, Vol. 533, No. 1, 01.01.2014, p. 398-402.

Research output: Contribution to journalArticle

Mauri, L, Barone, L, Al Oum, M, Del Longo, A, Piozzi, E, Manfredini, E, Stanzial, F, Benedicenti, F, Penco, S & Patrosso, MC 2014, 'SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies', Gene, vol. 533, no. 1, pp. 398-402. https://doi.org/10.1016/j.gene.2013.09.053
Mauri, Lucia ; Barone, Luca ; Al Oum, Muna ; Del Longo, Alessandra ; Piozzi, Elena ; Manfredini, Emanuela ; Stanzial, Franco ; Benedicenti, Francesco ; Penco, Silvana ; Patrosso, Maria Cristina. / SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. In: Gene. 2014 ; Vol. 533, No. 1. pp. 398-402.
@article{5a4866d38b3a47d69fe86f44d0a7bbb6,
title = "SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies",
abstract = "Background: Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes.OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair, blue irides and nystagmus to brown/black hair, brown irides and no nystagmus. The high clinic variety often leads to misdiagnosis.Our aim is to contribute to OCA4 diagnosis defining SLC45A2 genetic variants in Italian patients with OCA without any TYR, OCA2 and TYRP1 gene defects. Materials and methods: After the clinical diagnosis of OCA, all patients received genetic counseling and genetic test. Automatic sequencing of TYR, OCA2, and TYRP1 genes was performed on DNA of 117 albino patients. Multiplex Ligation-dependent Probe Amplification (MLPA) was carried out on TYR and OCA2 genes to increase the mutation rate. SLC45A2 gene sequencing was then executed in the patients with a single mutation in one of the TYR, OCA2, TYRP1 genes and in the patients, which resulted negative at the screening of these genes. Results: SLC45A2 gene analysis was performed in 41 patients and gene alterations were found in 5 patients. Four previously reported SLC45A2 mutations were found: p.G100S, p.W202C, p.A511E and c.986delC, and three novel variants were identified: p.M265L, p.H94D, and c.1156+1G>A. All the alterations have been detected in the group of patients without mutations in the other OCA genes. Conclusions: Three new variants were identified in OCA4 gene; the analysis allowed the classification of a patient previously misdiagnosed as OA1 because of skin and hair pigmentation presence. The molecular defects in SLC45A2 gene represent the 3.4{\%} in this cohort of Italian patients, similar to other Caucasian populations; our data differ from those previously published by an Italian researcher group, obtained on a smaller cohort of patients.",
keywords = "Albinism, Novel variants, OCA4, SLC45A2",
author = "Lucia Mauri and Luca Barone and {Al Oum}, Muna and {Del Longo}, Alessandra and Elena Piozzi and Emanuela Manfredini and Franco Stanzial and Francesco Benedicenti and Silvana Penco and Patrosso, {Maria Cristina}",
year = "2014",
month = "1",
day = "1",
doi = "10.1016/j.gene.2013.09.053",
language = "English",
volume = "533",
pages = "398--402",
journal = "Gene",
issn = "0378-1119",
publisher = "Elsevier B.V.",
number = "1",

}

TY - JOUR

T1 - SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies

AU - Mauri, Lucia

AU - Barone, Luca

AU - Al Oum, Muna

AU - Del Longo, Alessandra

AU - Piozzi, Elena

AU - Manfredini, Emanuela

AU - Stanzial, Franco

AU - Benedicenti, Francesco

AU - Penco, Silvana

AU - Patrosso, Maria Cristina

PY - 2014/1/1

Y1 - 2014/1/1

N2 - Background: Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes.OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair, blue irides and nystagmus to brown/black hair, brown irides and no nystagmus. The high clinic variety often leads to misdiagnosis.Our aim is to contribute to OCA4 diagnosis defining SLC45A2 genetic variants in Italian patients with OCA without any TYR, OCA2 and TYRP1 gene defects. Materials and methods: After the clinical diagnosis of OCA, all patients received genetic counseling and genetic test. Automatic sequencing of TYR, OCA2, and TYRP1 genes was performed on DNA of 117 albino patients. Multiplex Ligation-dependent Probe Amplification (MLPA) was carried out on TYR and OCA2 genes to increase the mutation rate. SLC45A2 gene sequencing was then executed in the patients with a single mutation in one of the TYR, OCA2, TYRP1 genes and in the patients, which resulted negative at the screening of these genes. Results: SLC45A2 gene analysis was performed in 41 patients and gene alterations were found in 5 patients. Four previously reported SLC45A2 mutations were found: p.G100S, p.W202C, p.A511E and c.986delC, and three novel variants were identified: p.M265L, p.H94D, and c.1156+1G>A. All the alterations have been detected in the group of patients without mutations in the other OCA genes. Conclusions: Three new variants were identified in OCA4 gene; the analysis allowed the classification of a patient previously misdiagnosed as OA1 because of skin and hair pigmentation presence. The molecular defects in SLC45A2 gene represent the 3.4% in this cohort of Italian patients, similar to other Caucasian populations; our data differ from those previously published by an Italian researcher group, obtained on a smaller cohort of patients.

AB - Background: Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes.OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair, blue irides and nystagmus to brown/black hair, brown irides and no nystagmus. The high clinic variety often leads to misdiagnosis.Our aim is to contribute to OCA4 diagnosis defining SLC45A2 genetic variants in Italian patients with OCA without any TYR, OCA2 and TYRP1 gene defects. Materials and methods: After the clinical diagnosis of OCA, all patients received genetic counseling and genetic test. Automatic sequencing of TYR, OCA2, and TYRP1 genes was performed on DNA of 117 albino patients. Multiplex Ligation-dependent Probe Amplification (MLPA) was carried out on TYR and OCA2 genes to increase the mutation rate. SLC45A2 gene sequencing was then executed in the patients with a single mutation in one of the TYR, OCA2, TYRP1 genes and in the patients, which resulted negative at the screening of these genes. Results: SLC45A2 gene analysis was performed in 41 patients and gene alterations were found in 5 patients. Four previously reported SLC45A2 mutations were found: p.G100S, p.W202C, p.A511E and c.986delC, and three novel variants were identified: p.M265L, p.H94D, and c.1156+1G>A. All the alterations have been detected in the group of patients without mutations in the other OCA genes. Conclusions: Three new variants were identified in OCA4 gene; the analysis allowed the classification of a patient previously misdiagnosed as OA1 because of skin and hair pigmentation presence. The molecular defects in SLC45A2 gene represent the 3.4% in this cohort of Italian patients, similar to other Caucasian populations; our data differ from those previously published by an Italian researcher group, obtained on a smaller cohort of patients.

KW - Albinism

KW - Novel variants

KW - OCA4

KW - SLC45A2

UR - http://www.scopus.com/inward/record.url?scp=84887255556&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84887255556&partnerID=8YFLogxK

U2 - 10.1016/j.gene.2013.09.053

DO - 10.1016/j.gene.2013.09.053

M3 - Article

C2 - 24096233

AN - SCOPUS:84887255556

VL - 533

SP - 398

EP - 402

JO - Gene

JF - Gene

SN - 0378-1119

IS - 1

ER -