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Overview
Historically, the diagnosis of Lowe syndrome in a potentially affected male was usually made by a geneticist (a physician specifically trained in genetics). In many cases however, there are a few initial clues (symptoms) to assist in diagnosis. For example, a number of the symptoms of Lowe syndrome may not manifest themselves until a later age.
Today we have a number of highly accurate diagnostic techniques available. The section will help you understand those techniques and when they are applicable. We will discuss the methods for both post-natal and pre-natal situations. For example, you may see low muscle tone, cataracts, infantile glaucoma, undescended testes, sacral dimple. A number of the clues (symptoms) of Lowe syndrome may not manifest themselves until a later age.
GeneReviews
A very detailed medical description of Lowe syndrome can be found on GeneReviews. This article is suggested for medical professionals and researchers who need to learn more about Lowe syndrome, including the technical details of diagnosis and the genetics involved with Lowe syndrome.
Go to ArticleDiagnostic Method
The actual method(s) used to diagnose Lowe syndrome will depend on whether it is pre-natal or post-natal situation. The following sections provide more information on the available diagnostic techniques for both post-natal and pre-natal situations.
Clinical Diagnosis
Since clinical diagnosis is not considered accurate by itself, it is usually used as pre-cursor to one of the scientific diagnostic methods available today (Enzyme or DNA analysis). In clinical diagnosis, the known symptoms of Lowe syndrome are compared to those of an affected male. Family history is also carefully examined, usually with the aid of genetic counselor. Assuming there is a reasonable suspicion of Lowe syndrome, the child’s mother can be examined by a trained ophthalmologist for the tell-tale “snowflake” lenticular opacities (visit the Carrier Detection section and go to the opthalmologic examination sub-section).
Enzyme Deficiency Analysis
Scientific research has shown that the X-linked gene mutation that causes Lowe syndrome leads to a deficiency in the production of a certain enzyme (phosphatidylinositol-4, 5-bisphosphate phosphatase). We can look at the level of this enzyme in a potentially affected male to confirm Lowe syndrome diagnosis. The enzyme test is done by obtaining a small skin sample, which is cultured and sent to one of the available testing laboratories.
DNA Analysis
Through research, we understand where the defective gene (called OCRL1) is located, and also the specific job it has relating to enzyme production. We are able to perform DNA analysis on a potentially affected male to prove a diagnosis of Lowe syndrome with approximately a 99% accuracy. DNA analysis can also be used to test for the Lowe syndrome mutation in potential female carriers.
Potentially
Affected Male
The following diagnostic techniques are available for diagnosing a male who may be affected by Lowe syndrome. The flowchart illustrates the general steps taken to confirm a diagnosis of Lowe syndrome.
Pre-natal Diagnosis
The following diagnostic techniques are available in pre-natal situations. The flowchart illustrates the general steps taken to confirm a diagnosis of Lowe syndrome in a fetus.
Enzyme Deficiency Analysis
Scientific research has shown that the X-linked gene mutation that causes Lowe syndrome leads to a deficiency in the production of a certain enzyme (phosphatidylinositol-4, 5-bisphosphate phosphatase).
DNA Analysis
Provided the actual gene mutation is known, DNA Analysis can be used effectively for pre-natal diagnosis
Ultrasound
Ultrasound examination of the unborn fetus to determine the existence of cataracts. This technique is most useful in situations where there is a strong family history of Lowe syndrome.
Diagnostic Testing Labs
The following table is a listing of laboratories that provide DNA and/or biochemical tests for Lowe syndrome.
All
United States
United Kingdom
Slovakia
Spain
Germany
France
Other
United States
Baylor College of Medicine
Medical Genetics Laboratories
Houston, TX
Contact: Medical Genetics Laboratories
E-mail: genetictest@bcm.tmc.edu
Phone: 1-800-411-GENE (4363)
Fax: (713) 798-2787
United States
Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Genetic Counselor:
Rifaat Rawashdeh, MS, MSc
E-mail: rrawash@emory.edu
Phone: (404) 778-8523
Fax: (404) 778-8559
Genetic Counselor:
Alice Tanner, PhD, MS, CGC
E-mail: alice.tanner@emory.edu
Phone: (404) 778-8469
United States
Genedx
Gaithersburg, MD
United Kingdom
St Mary’s Hospital Manchester
Regional Molecular Genetics Service
Manchester, United Kingdom
Contact: Dr Andrew Wallace, PhD, FRCPath
E-mail: rob.elles@cmft.nhs.uk or
andrew.wallace@cmft.nhs.uk
Phone: (+44) (0)161-276-6129/6122
Fax: (+44) (0)1612766606
Slovakia
MedGene s.r.o.
Bratislava, Slovakia
Contact: Martina Hikkelova, RNDr
Email: genetests@medgene.eu
phone: +4212 20737474
fax: +4212 33016065
Contact: I. Hikkel, RNDr, PhD
Email: genetests@medgene.eu
Phone: +4212 20737474
Fax: +4212 33016065
Spain
Instituto de Medicina Genómica
IMEGEN
Paterna, Comunidad Valenciana, Spain
Genetic Counselor: María Garcia-Hoyos, PhD
Email: maria.garcia@imegen.es
Phone: (+34) 963212340
Fax: (+34) 963212341
Germany
Centogene GmbH
Institute of Molecular Diagnostics
Rostock, Germany
Contact: Anne Quaschner
Genetic Counselor: Dr Uta Goelnitz, PhD
Email: uta.goelnitz@centogene.de
Phone: (+49) (0)381-20 36 52 16
Fax: (+49) (0)381-20 36 52 19
Germany
Center for Nephrology and Metabolic Disorders
Laboratory for Molecular Diagnostics
Weisswasser, Germany
Contact: Mato Nagel, MD
Email: nagel@moldiag.de
Phone: (+49) 3576287822
Fax: (+49) 3576387944
Germany
Zentrum fuer Medizinische Genetik
Osnabrueck, Germany
Contact: Heinz Gabriel, PhD
Email: zmg@gmx.net
Phone: (+49) 54180019903
Fax: (+49) 54180019905
Contact: Melanie Kuhn, PhD
Email: zmg@gmx.net
Phone: (+49) 54180019904
Fax: (+49) 54180019905
Germany
Diagenom GmbH
Medical Genetics Laboratory
Rostock, Germany
Contact: Dr Hagen Pommerenke, PhD
Email: mail@diagenom.de
Phone: (+49) 381-7022750
Fax: (+49) 381-7022759
France
Centre Hospitalier Universitaire de Grenoble
Biochimie et Genetique Moléculaire
Grenoble, France
Contact: Nicole Monnier, PhD
Email: nmonnier@chu-grenoble.fr
Phone: (+33) 476765573
Fax: (+33) 476765837
Contact: Joel L Lunardi, PhD
Email: jlunardi@chu-grenoble.fr
Phone: (+33) 476765573
Fax: (+33) 476765837