Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome

K. Sasaki, N. Okamoto, Kenjiro Kosaki, T. Yorifuji, O. Shimokawa, H. Mishima, K. I. Yoshiura, N. Harada

研究成果: Article

12 引用 (Scopus)

抄録

We report a case of segmental uniparental maternal hetero- and isodisomy involving the whole of chromosome 6 (mat-hUPD6 and mat-iUPD6) and a cullin 7 (CUL7) gene mutation in a Japanese patient with 3M syndrome. 3M syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation that was recently reported to involve mutations in the CUL7 or obscurin-like 1 (OBSL1) genes. We encountered a patient with severe growth retardation, an inverted triangular gloomy face, an inverted triangle-shaped head, slender long bones, inguinal hernia, hydrocele testis, mild ventricular enlargement, and mild mental retardation. Sequence analysis of the CUL7 gene of the patient revealed a homozygous missense mutation, c.2975G>C. Genotype analysis using a single nucleotide polymorphism array revealed two mat-hUPD and two mat-iUPD regions involving the whole of chromosome 6 and encompassing CUL7. 3M syndrome caused by complete paternal iUPD of chromosome 6 involving a CUL7 mutation has been reported, but there have been no reports describing 3M syndrome with maternal UPD of chromosome 6. Our results represent a combination of iUPDs and hUPDs from maternal chromosome 6 involving a CUL7 mutation causing 3M syndrome.

元の言語English
ページ(範囲)478-483
ページ数6
ジャーナルClinical Genetics
80
発行部数5
DOI
出版物ステータスPublished - 2011 11

Fingerprint

Cullin Proteins
Uniparental Disomy
Chromosomes, Human, Pair 6
Mothers
Mutation
Genes
Inguinal Hernia
Missense Mutation
Growth
Intellectual Disability
Single Nucleotide Polymorphism
Sequence Analysis
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Testis
Head
Genotype
Bone and Bones

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

これを引用

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome. / Sasaki, K.; Okamoto, N.; Kosaki, Kenjiro; Yorifuji, T.; Shimokawa, O.; Mishima, H.; Yoshiura, K. I.; Harada, N.

:: Clinical Genetics, 巻 80, 番号 5, 11.2011, p. 478-483.

研究成果: Article

Sasaki, K, Okamoto, N, Kosaki, K, Yorifuji, T, Shimokawa, O, Mishima, H, Yoshiura, KI & Harada, N 2011, 'Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome', Clinical Genetics, 巻. 80, 番号 5, pp. 478-483. https://doi.org/10.1111/j.1399-0004.2010.01599.x
Sasaki, K. ; Okamoto, N. ; Kosaki, Kenjiro ; Yorifuji, T. ; Shimokawa, O. ; Mishima, H. ; Yoshiura, K. I. ; Harada, N. / Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome. :: Clinical Genetics. 2011 ; 巻 80, 番号 5. pp. 478-483.
@article{492fe85da69f42e7b0c4742cdeca2233,
title = "Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome",
abstract = "We report a case of segmental uniparental maternal hetero- and isodisomy involving the whole of chromosome 6 (mat-hUPD6 and mat-iUPD6) and a cullin 7 (CUL7) gene mutation in a Japanese patient with 3M syndrome. 3M syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation that was recently reported to involve mutations in the CUL7 or obscurin-like 1 (OBSL1) genes. We encountered a patient with severe growth retardation, an inverted triangular gloomy face, an inverted triangle-shaped head, slender long bones, inguinal hernia, hydrocele testis, mild ventricular enlargement, and mild mental retardation. Sequence analysis of the CUL7 gene of the patient revealed a homozygous missense mutation, c.2975G>C. Genotype analysis using a single nucleotide polymorphism array revealed two mat-hUPD and two mat-iUPD regions involving the whole of chromosome 6 and encompassing CUL7. 3M syndrome caused by complete paternal iUPD of chromosome 6 involving a CUL7 mutation has been reported, but there have been no reports describing 3M syndrome with maternal UPD of chromosome 6. Our results represent a combination of iUPDs and hUPDs from maternal chromosome 6 involving a CUL7 mutation causing 3M syndrome.",
keywords = "3M syndrome, Cullin 7 (CUL7), Genome-Wide Human SNP Array 6.0 (SNP6.0), Maternal uniparental disomy of chromosome 6 (matUPD6)",
author = "K. Sasaki and N. Okamoto and Kenjiro Kosaki and T. Yorifuji and O. Shimokawa and H. Mishima and Yoshiura, {K. I.} and N. Harada",
year = "2011",
month = "11",
doi = "10.1111/j.1399-0004.2010.01599.x",
language = "English",
volume = "80",
pages = "478--483",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "5",

}

TY - JOUR

T1 - Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome

AU - Sasaki, K.

AU - Okamoto, N.

AU - Kosaki, Kenjiro

AU - Yorifuji, T.

AU - Shimokawa, O.

AU - Mishima, H.

AU - Yoshiura, K. I.

AU - Harada, N.

PY - 2011/11

Y1 - 2011/11

N2 - We report a case of segmental uniparental maternal hetero- and isodisomy involving the whole of chromosome 6 (mat-hUPD6 and mat-iUPD6) and a cullin 7 (CUL7) gene mutation in a Japanese patient with 3M syndrome. 3M syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation that was recently reported to involve mutations in the CUL7 or obscurin-like 1 (OBSL1) genes. We encountered a patient with severe growth retardation, an inverted triangular gloomy face, an inverted triangle-shaped head, slender long bones, inguinal hernia, hydrocele testis, mild ventricular enlargement, and mild mental retardation. Sequence analysis of the CUL7 gene of the patient revealed a homozygous missense mutation, c.2975G>C. Genotype analysis using a single nucleotide polymorphism array revealed two mat-hUPD and two mat-iUPD regions involving the whole of chromosome 6 and encompassing CUL7. 3M syndrome caused by complete paternal iUPD of chromosome 6 involving a CUL7 mutation has been reported, but there have been no reports describing 3M syndrome with maternal UPD of chromosome 6. Our results represent a combination of iUPDs and hUPDs from maternal chromosome 6 involving a CUL7 mutation causing 3M syndrome.

AB - We report a case of segmental uniparental maternal hetero- and isodisomy involving the whole of chromosome 6 (mat-hUPD6 and mat-iUPD6) and a cullin 7 (CUL7) gene mutation in a Japanese patient with 3M syndrome. 3M syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation that was recently reported to involve mutations in the CUL7 or obscurin-like 1 (OBSL1) genes. We encountered a patient with severe growth retardation, an inverted triangular gloomy face, an inverted triangle-shaped head, slender long bones, inguinal hernia, hydrocele testis, mild ventricular enlargement, and mild mental retardation. Sequence analysis of the CUL7 gene of the patient revealed a homozygous missense mutation, c.2975G>C. Genotype analysis using a single nucleotide polymorphism array revealed two mat-hUPD and two mat-iUPD regions involving the whole of chromosome 6 and encompassing CUL7. 3M syndrome caused by complete paternal iUPD of chromosome 6 involving a CUL7 mutation has been reported, but there have been no reports describing 3M syndrome with maternal UPD of chromosome 6. Our results represent a combination of iUPDs and hUPDs from maternal chromosome 6 involving a CUL7 mutation causing 3M syndrome.

KW - 3M syndrome

KW - Cullin 7 (CUL7)

KW - Genome-Wide Human SNP Array 6.0 (SNP6.0)

KW - Maternal uniparental disomy of chromosome 6 (matUPD6)

UR - http://www.scopus.com/inward/record.url?scp=80053545587&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80053545587&partnerID=8YFLogxK

U2 - 10.1111/j.1399-0004.2010.01599.x

DO - 10.1111/j.1399-0004.2010.01599.x

M3 - Article

C2 - 21166787

AN - SCOPUS:80053545587

VL - 80

SP - 478

EP - 483

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 5

ER -