alexa LMX1B gene mutation in a Saudi patient with bilateral symmetrical hypoplastic nails of the hands | OMICS International | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

Like us on:

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations
700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Case Report

LMX1B gene mutation in a Saudi patient with bilateral symmetrical hypoplastic nails of the hands

Ibrahim AlAbdulkareem1,2*, Sameer Abdi3, Mohammed Al Fawaz1, Mohammed Al Balwi1,2,4

1Molecular Biology, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Riyadh, Saudi Arabia

2King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, Saudi Arabia.

3Department of Pediatrics, King Abdulaziz Medical City, Al-Hasa, Saudi Arabia

4Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia

*Corresponding Author:
Dr. Mohammed Al Balwi
Department of Pathology and Laboratory Medicine
King Abdulaziz Medical City
Po Box 22490, Riyadh 11426
Kingdom of Saudi Arabia, Saudi Arabia
Tel: +9661252 0088 ext. 11287
Fax: +9661252 0130
E-mail: [email protected]

Received date: September 08, 2011; Accepted date:November 14, 2011; Published date: November 17, 2011

Citation: Abdulkareem IAI, Abdi S, Fawaz MAI, Balwi MAl (2011) LMX1B gene mutation in a Saudi patient with bilateral symmetrical hypoplastic nails of the upper limbs. J Genet Syndr Gene Ther 2:108. doi:10.4172/2157-7412.1000108

Copyright: © 2011 Abdulkareem IAI, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is highly penetrant with marked phonotypical variability among inter- and intra-familial cases. We describe here a patient with a characteristic phenotype of familial bilateral symmetrical hypoplastic nails of the upper limbs and a small patella displaced by ultrasound. This patient has a homozygous mutation in the gene encoding LIM homeobox transcription factor 1 beta (LMX1B). Molecular DNA sequencing revealed that this is the first report in the literature linking a homozygous c.268C>T (p.Phe90Leu) mutation located within the highly conserved LIM-A domain of the LMX1B gene with presentation of NPS. Familial molecular analysis showed that both parents are heterozygous for the c.268C>T mutation. Therefore, prenatal diagnosis and genetic counselling are important considerations for family future planning.


Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2018-19
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

+1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals


[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

© 2008- 2018 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
Leave Your Message 24x7