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A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability. / Kashevarova, Anna A.; Nazarenko, Lyudmila P.; Skryabin, Nikolay A. et al.

In: American Journal of Medical Genetics, Part A, Vol. 176, No. 11, 01.11.2018, p. 2395-2403.

Research output: Contribution to journal › Article › peer-review

Harvard

Kashevarova, AA, Nazarenko, LP, Skryabin, NA, Nikitina, TV, Vasilyev, SA, Tolmacheva, EN, Lopatkina, ME, Salyukova, OA, Chechetkina, NN, Vorotelyak, EA, Kalabusheva, EP, Fishman, VS, Kzhyshkowska, J, Graziano, C, Magini, P, Romeo, G & Lebedev, IN 2018, 'A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability', American Journal of Medical Genetics, Part A, vol. 176, no. 11, pp. 2395-2403. https://doi.org/10.1002/ajmg.a.40478

APA

Kashevarova, A. A., Nazarenko, L. P., Skryabin, N. A., Nikitina, T. V., Vasilyev, S. A., Tolmacheva, E. N., Lopatkina, M. E., Salyukova, O. A., Chechetkina, N. N., Vorotelyak, E. A., Kalabusheva, E. P., Fishman, V. S., Kzhyshkowska, J., Graziano, C., Magini, P., Romeo, G., & Lebedev, I. N. (2018). A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability. American Journal of Medical Genetics, Part A, 176(11), 2395-2403. https://doi.org/10.1002/ajmg.a.40478

Vancouver

Kashevarova AA, Nazarenko LP, Skryabin NA, Nikitina TV, Vasilyev SA, Tolmacheva EN et al. A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability. American Journal of Medical Genetics, Part A. 2018 Nov 1;176(11):2395-2403. doi: 10.1002/ajmg.a.40478

Author

Kashevarova, Anna A. ; Nazarenko, Lyudmila P. ; Skryabin, Nikolay A. et al. / A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability. In: American Journal of Medical Genetics, Part A. 2018 ; Vol. 176, No. 11. pp. 2395-2403.

BibTeX

@article{c33507997cd744a9a3e44ca1433ad211,
title = "A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability",
abstract = "The application of array-based comparative genomic hybridization and next-generation sequencing has identified many chromosomal microdeletions and microduplications in patients with different pathological phenotypes. Different copy number variations are described within the short arm of chromosome 18 in patients with skin diseases. In particular, full or partial monosomy 18p has also been associated with keratosis pilaris. Here, for the first time, we report a young male patient with intellectual disability, diabetes mellitus (type I), and keratosis pilaris, who exhibited a de novo 45-kb microduplication of exons 4–22 of LAMA1, located at 18p11.31, and a 432-kb 18p11.32 microduplication of paternal origin containing the genes METTL4, NDC80, and CBX3P2 and exons 1–15 of the SMCHD1 gene. The microduplication of LAMA1 was identified in skin fibroblasts but not in lymphocytes, whereas the larger microduplication was present in both tissues. We propose LAMA1 as a novel candidate gene for keratosis pilaris. Although inherited from a healthy father, the 18p11.32 microduplication, which included relevant genes, could also contribute to phenotype manifestation.",
keywords = "18p11.32 microduplication, developmental delay, diabetes mellitus, EMILIN2, intellectual disability, keratosis pilaris, LAMA1, LPIN2, METTL4, mosaic CNVs, NDC80, SMCHD1, TRISOMY 18P, MONOSOMY, 18P DELETION, GENE, COPY-NUMBER, SHORT ARM, ULERYTHEMA-OPHRYOGENES, Chromosome Duplication/genetics, Humans, Child, Preschool, Skin/pathology, Infant, Male, Fibroblasts/metabolism, Intellectual Disability/complications, Child, Infant, Newborn, Abnormalities, Multiple/genetics, Gene Expression Regulation, Laminin/genetics, Comparative Genomic Hybridization, Darier Disease/complications, Adolescent, Mosaicism, Eyebrows/abnormalities",
author = "Kashevarova, {Anna A.} and Nazarenko, {Lyudmila P.} and Skryabin, {Nikolay A.} and Nikitina, {Tatiana V.} and Vasilyev, {Stanislav A.} and Tolmacheva, {Ekaterina N.} and Lopatkina, {Mariya E.} and Salyukova, {Olga A.} and Chechetkina, {Nataliya N.} and Vorotelyak, {Ekaterina A.} and Kalabusheva, {Ekaterina P.} and Fishman, {Veniamin S.} and Julia Kzhyshkowska and Claudio Graziano and Pamela Magini and Giovanni Romeo and Lebedev, {Igor N.}",
note = "Publisher Copyright: {\textcopyright} 2018 Wiley Periodicals, Inc.",
year = "2018",
month = nov,
day = "1",
doi = "10.1002/ajmg.a.40478",
language = "English",
volume = "176",
pages = "2395--2403",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "11",

}

RIS

TY - JOUR

T1 - A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

AU - Kashevarova, Anna A.

AU - Nazarenko, Lyudmila P.

AU - Skryabin, Nikolay A.

AU - Nikitina, Tatiana V.

AU - Vasilyev, Stanislav A.

AU - Tolmacheva, Ekaterina N.

AU - Lopatkina, Mariya E.

AU - Salyukova, Olga A.

AU - Chechetkina, Nataliya N.

AU - Vorotelyak, Ekaterina A.

AU - Kalabusheva, Ekaterina P.

AU - Fishman, Veniamin S.

AU - Kzhyshkowska, Julia

AU - Graziano, Claudio

AU - Magini, Pamela

AU - Romeo, Giovanni

AU - Lebedev, Igor N.

N1 - Publisher Copyright: © 2018 Wiley Periodicals, Inc.

PY - 2018/11/1

Y1 - 2018/11/1

N2 - The application of array-based comparative genomic hybridization and next-generation sequencing has identified many chromosomal microdeletions and microduplications in patients with different pathological phenotypes. Different copy number variations are described within the short arm of chromosome 18 in patients with skin diseases. In particular, full or partial monosomy 18p has also been associated with keratosis pilaris. Here, for the first time, we report a young male patient with intellectual disability, diabetes mellitus (type I), and keratosis pilaris, who exhibited a de novo 45-kb microduplication of exons 4–22 of LAMA1, located at 18p11.31, and a 432-kb 18p11.32 microduplication of paternal origin containing the genes METTL4, NDC80, and CBX3P2 and exons 1–15 of the SMCHD1 gene. The microduplication of LAMA1 was identified in skin fibroblasts but not in lymphocytes, whereas the larger microduplication was present in both tissues. We propose LAMA1 as a novel candidate gene for keratosis pilaris. Although inherited from a healthy father, the 18p11.32 microduplication, which included relevant genes, could also contribute to phenotype manifestation.

AB - The application of array-based comparative genomic hybridization and next-generation sequencing has identified many chromosomal microdeletions and microduplications in patients with different pathological phenotypes. Different copy number variations are described within the short arm of chromosome 18 in patients with skin diseases. In particular, full or partial monosomy 18p has also been associated with keratosis pilaris. Here, for the first time, we report a young male patient with intellectual disability, diabetes mellitus (type I), and keratosis pilaris, who exhibited a de novo 45-kb microduplication of exons 4–22 of LAMA1, located at 18p11.31, and a 432-kb 18p11.32 microduplication of paternal origin containing the genes METTL4, NDC80, and CBX3P2 and exons 1–15 of the SMCHD1 gene. The microduplication of LAMA1 was identified in skin fibroblasts but not in lymphocytes, whereas the larger microduplication was present in both tissues. We propose LAMA1 as a novel candidate gene for keratosis pilaris. Although inherited from a healthy father, the 18p11.32 microduplication, which included relevant genes, could also contribute to phenotype manifestation.

KW - 18p11.32 microduplication

KW - developmental delay

KW - diabetes mellitus

KW - EMILIN2

KW - intellectual disability

KW - keratosis pilaris

KW - LAMA1

KW - LPIN2

KW - METTL4

KW - mosaic CNVs

KW - NDC80

KW - SMCHD1

KW - TRISOMY 18P

KW - MONOSOMY

KW - 18P DELETION

KW - GENE

KW - COPY-NUMBER

KW - SHORT ARM

KW - ULERYTHEMA-OPHRYOGENES

KW - Chromosome Duplication/genetics

KW - Humans

KW - Child, Preschool

KW - Skin/pathology

KW - Infant

KW - Male

KW - Fibroblasts/metabolism

KW - Intellectual Disability/complications

KW - Child

KW - Infant, Newborn

KW - Abnormalities, Multiple/genetics

KW - Gene Expression Regulation

KW - Laminin/genetics

KW - Comparative Genomic Hybridization

KW - Darier Disease/complications

KW - Adolescent

KW - Mosaicism

KW - Eyebrows/abnormalities

UR - http://www.scopus.com/inward/record.url?scp=85053736441&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.40478

DO - 10.1002/ajmg.a.40478

M3 - Article

C2 - 30244536

AN - SCOPUS:85053736441

VL - 176

SP - 2395

EP - 2403

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 11

ER -

ID: 16688896