Tag Archives: #autosomalrecessive

Bardet Biedl Syndrome

© 2017, GENASSIST, Inc.     

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Bardet Biedl Syndrome is a disease with a carrier frequency of (1 in 250 to 1 in 2200) and affects approximately (1 in 140,000) pregnancies.

Bardet Biedl Syndrome: Autosomal recessive inheritance (25% if both parents are gene carriers) with an additional modifier gene has been described.

http://www.bardetbiedl.org/

Bardet Biedl Syndrome is a disorder that can affect different parts of the baby. Vision loss, obesity, extra fingers and/or toes and developmental delay has been described.

Life threatening kidney problems have been described in some individuals.

 

Disease “Anticipation”

© 2017, GENASSIST, Inc.     

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Some diseases appear to repeat in some families (familial) and become more severe and occur at a younger age from generation to generation. This is described in the genetic community as “Anticipation”.

Some of these disorders have a clear genetic pattern of inheritance e.g. Myotonic Dystrophy and Huntington’s Disease inherited in an Autosomal Dominant manner and Fragile X and Spinal-Bulbar Muscular Atrophy inherited in a sex linked (X Linked) manner.

Friedrich’s Ataxia can be inherited in an Autosomal Recessive manner and the Spinocerebellar Ataxias or Dyskeratosis Congenita can be inherited in an Autosomal Dominant, Autosomal Recessive or sex linked (X Linked) manner.

All of these diseases may demonstrate “Anticipation.

These disease may demonstrate expansions* of Triplet Trinucelotide repeats (e.g. CAG, CTG, GTG, GAG), Pentanucleotide repeats (e.g. TGGAA, ATTCT) or Telomeric Repeats(e.g. TTA, GGG). Expansions of these repeats have been associated with human disease(s) and in some cases “Anticipation”.

  • *Adenine – A
  • Cytosine – C
  • Guanine – G
  • Thymine – T

Summary:

Some disorders with multiple or uncertain modes of inheritance also appear to demonstrate “Anticipation” and have a genetic component involved [e.g. certain cancers (breast, pancreatic), Crohn’s Disease, Behcet’s Syndrome and Meniere’s Disease.

Ashkenazi Jewish Genetic Diseases – Thrombocytopenia Amegakaryocytic (Congenital)

© 2016

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech /Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

With the wonderful advancements with Microarray Screening Panels, a patient can be screened prior to a pregnancy, for a single disease up to a “general panel” that can help screen for hundreds of diseases.

If the patient were found to be a carrier of a disease and/or diseases then the patient’s partner can be tested to help rule out his/her carrier state for those diseases.

Thrombocytopenia Amegakaryocytic (Congenital) is an Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 75) and affects (1 in 7,401) pregnancies.

Thrombocytopenia Amegakaryocytic (Congenital): Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Thrombocytopenia Amegakaryocytic (Congenital) is characterized by low blood platelets in infancy which progresses to low red and white blood cells in later childhood. Thrombopoitin (TPO) which regulates platelet production is increased but there is little to no platelet production response to the increased TPO. Mutations in the C-Mpl gene – a TPO surface receptor located on the short arm of chromosome #1 (1p34) has been described in many of these cases.

Symptoms include bruising and bleeding. There is an increased risk for the development of acute myelogenous leukemia and myelodysplastic syndrome (where the body makes abnormal cells in blood or bone marrow).

Platelet transfusions and ultimately bone marrow transplantation is usually required in severe cases.

*The Preconception Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconception testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012. 

Thrombocytopenia Amegakaryocytic (Congenital)

ashkenazi-thrombocytopenia-congenital© 2016

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech /Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

With the wonderful advancements with Microarray Screening Panels, a patient can be screened prior to a pregnancy, for a single disease up to a “general panel” that can help screen for hundreds of diseases.

If the patient were found to be a carrier of a disease and/or diseases then the patient’s partner can be tested to help rule out his/her carrier state for those diseases.

Thrombocytopenia Amegakaryocytic (Congenital) is an Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 75) and affects (1 in 7,401) pregnancies.

Thrombocytopenia Amegakaryocytic (Congenital): Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Thrombocytopenia Amegakaryocytic (Congenital) is characterized by low blood platelets in infancy which progresses to low red and white blood cells in later childhood. Thrombopoitin (TPO) which regulates platelet production is increased but there is little to no platelet production response to the increased TPO.

Mutations in the C-Mpl gene – a TPO surface receptor located on the short arm of chromosome #1 (1p34) has been described in many of these cases.

Symptoms include bruising and bleeding. There is an increased risk for the development of acute myelogenous leukemia and myelodysplastic syndrome (where the body makes abnormal cells in blood or bone marrow). Platelet transfusions and ultimately bone marrow transplantation is usually required in severe cases.

*The Preconception Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconception testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012. 

Ashkenazi Jewish Genetic Diseases – Walker Warburg Syndrome

ashkenazi-walker-warbburg-min

© 2016            

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Walker-Warburg Syndrome is an Ashkenazi Jewish inherited diseases with a carrier frequency of (1 in 120) and affects (1 in 57,000 pregnancies).

Walker-Warburg Syndrome: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Walker-Warburg Syndrome can vary in severity but usually refers to a severe form of muscular dystrophy affecting the brain, eyes and muscles often being fatal in the first several weeks or months of life.

http://cortfoundation.org/cms/get-informed/associated-syndromes/walker-warburg-syndrome/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012  

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