NDLI: A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Hobson, Grace M. Gibson, Carolyn W. Aragon, Melissa Yuan, Zhi-an Davis-Williams, Angelique Banser, Linda Kirkham, Jennifer Brook, Alan H.
Description	Country affiliation: United States Author Affiliation: Hobson GM ( Alfred I. DuPont Hospital for Children, Wilmington, Delaware, USA.)
Abstract	A female patient is described with clinical symptoms of both microphthalmia with linear skin defects (MLS or MIDAS) and dental enamel defects, having an appearance compatible with X-linked amelogenesis imperfecta (XAI). Genomic DNA was purified from the patient's blood and semiquantitative multiplex PCR revealed a deletion encompassing the amelogenin gene (AMELX). Because MLS is also localized to Xp22, genomic DNA was subjected to array comparative genomic hybridization, and a large heterozygous deletion was identified. Histopathology of one primary and one permanent molar tooth showed abnormalities in the dental enamel layer, and a third tooth had unusually high microhardness measurements, possibly due to its ultrastructural anomalies as seen by scanning electron microscopy. This is the first report of a patient with both of these rare conditions, and the first description of the phenotype resulting from a deletion encompassing the entire AMELX gene. More than 50 additional genes were monosomic in this patient.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.32968
Journal	American Journal of Medical Genetics Part A
Issue Number	8
Volume Number	149A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2009-08-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Amelogenesis Imperfecta Complications Genetics Chromosome Deletion Chromosomes, Human, X Microphthalmos Skin Abnormalities Adolescent Bone Density Child, Preschool Dna Mutational Analysis Dental Enamel Pathology Ultrastructure Dentin Metabolism Gene Dosage Genetic Predisposition To Disease Hardness X Chromosome Inactivation Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

A Large X-Chromosomal Deletion is Associated with Microphthalmia with Linear Skin Defects (MLS) and Amelogenesis Imperfecta (XAI)

Hardness and microshear bond strength to enamel and dentin of permanent teeth with hypocalcified amelogenesis imperfecta.

Developmental defects of enamel and dentine: challenges for basic science research and clinical management.

Microphthalmia with linear skin defects syndrome.

Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Craniofacial characteristics and genotypes of amelogenesis imperfecta patients.

A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).

Similar Documents

A Large X-Chromosomal Deletion is Associated with Microphthalmia with Linear Skin Defects (MLS) and Amelogenesis Imperfecta (XAI)

Hardness and microshear bond strength to enamel and dentin of permanent teeth with hypocalcified amelogenesis imperfecta.

Developmental defects of enamel and dentine: challenges for basic science research and clinical management.

Microphthalmia with linear skin defects syndrome.

Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Craniofacial characteristics and genotypes of amelogenesis imperfecta patients.

A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).