Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Abstract Text:

S Takahashi,J Ohinata,Y Makita,N Suzuki,A Araki,A Sasaki,K Murono,H Tanaka,K Fujieda,

Mutations in the X-linked MECP2 gene cause Rett syndrome, a neurodevelopmental disorder that exclusively affects girls. Females with the MECP2 mutations exhibit a broad spectrum of clinical presentations ranging from classical Rett syndrome to asymptomatic carriers, which can be explained by differences in X chromosome inactivation (XCI). Here, we report a family with a girl with Rett syndrome in whom a novel missense mutation in the MECP2 gene was transmitted through the maternal germ line. The carrier mother was asymptomatic and presented non-random XCI in the peripheral blood cells, which resulted in the X chromosome harboring the mutant allele that was predominantly active. Thus, the presence of non-random XCI in the peripheral blood cells did not provide an explanation for the normal phenotype of the carrier mother. This result suggests that mechanisms other than XCI may contribute to the phenotypic heterogeneity associated with MECP2 mutations.

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Publishing Authors By Initials

S Takahashi,J Ohinata,Y Makita,N Suzuki,A Araki,A Sasaki,K Murono,H Tanaka,K Fujieda,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Clinical genetics

VOLUME: 73

Page Numbers: 257-61

Journal Abbreviation: Clin. Genet.

ISSN: 1399-0004

DAY: 8

MONTH: 01

YEAR: 2007

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 253664

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.

AFFILIATION: Department of Pediatrics, Asahikawa Medical College, Asahikawa, Japan. satoru5p@asahikawa-med.ac.jp

Country: Denmark

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Clin Genet

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome Related Publications

• A Japanese patient of congenital hypothyroidism with cerebellar atrophy.
• A Novel Missense Mutation (P366T) of the LHX4 Gene Causes Severe Combined Pituitary Hormone Deficiency with Pituitary Hypoplasia, Ectopic Posterior Lobe and a Poorly Developed Sella Turcica.
• Case study of a 15-year-old boy with McCune-Albright syndrome combined with pituitary gigantism: effect of octreotide-long acting release (LAR) and cabergoline therapy.
• Illumination uniformity of an edge-lit backlight with emission angle control.
• Infection of Haemophilus parainfluenzae in tonsils is associated with IgA nephropathy.
• Liquid-crystal phase grating based on in-plane switching.
• Matrix metalloproteinases in infants with posthemorrhagic hydrocephalus.
• Molecular basis of neonatal diabetes in Japanese patients.
• Multiple endocrine neoplasia syndromes.
• Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.
• Occult neurohypophyseal germinomas in patients presenting with central diabetes insipidus.
• Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.
• [Questionnaire survey on sleep habit of 3-year-old children in Asahikawa city]
• [The role of the nursing teacher in clinical training]
• [The significance of the nurses' station]
• [What is women's studies?]