Tag Archives: #raregeneticdiseases

Autism Spectrum Disorders – Pigmented Nodular Adrenocortical Disease

© 2018, GENASSIST, Inc.

By Keith S. Wexler, MBA, CFO, CIO – 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

Autism Spectrum Disorders – Pigmented Nodular Adrenocortical Disease is characterized by:

  • Bilateral adrenal cortical hyperplasia
  • *Cushing Syndrome
  • Hear impairment
  • Occasional Autism Spectrum Disorder behaviors

*Cushing Syndrome is a hormonal disorder caused by prolonged exposure to elevated levels of cortisol produced by the adrenal glands. It can be caused by excess production of cortisol from the adrenal glands or by administration of high levels of cortisol.

Cushing Syndrome symptoms can include:

  • High blood pressure
  • Bone loss
  • Type 2 diabetes
  • Weight gain
  • Stretch marks
  • Increased body hair
  • Bruising

Mutations in the PDE8B gene NSD1 on chromosome 5q13 or PD11A gene on chromosome 2q31 or the PRKAR1A gene on chromosome 17q23-24 have been described with the disorder.

Pigmented Nodular Adrenocortical Disease is believed to be inherited in an autosomal dominant manner (50%).

It is estimated that there are between 4,000 and 20,000 diseases (with over 7000 rare genetic diseases) and several companies are offering screening panels for the carrier state of several hundred conditions and the possible predisposition for various cancers including some hematologic and neurologic malignancies.

Analysis: One of the greatest dilemmas facing the healthcare provider is when a family presents with a positive family history of a very rare genetic disease and/or syndrome (e.g. Pigmented Nodular Adrenocortical Disease) and the family wants to know from the healthcare provider: 

  • Whether the disease and/or syndrome is inherited (autosomal dominant manner (50%), autosomal recessive (25% if both parents are gene carriers) or sex (X) linked (50% of males will be affected, 50% of females will be carriers), multifactorial (interaction of multiple genes with the environment, both genetic and non-genetic factors)?
  • Whether the disease and/or syndrome is sporadic (due to a new mutation) and might or might not reoccur in a family?
  • Whether the disease is caused by a Microdeletion?
  • Whether there is testing for the disease and/or syndrome?
  • If there is testing, is prenatal diagnosis and/or Preimplantation Genetic Diagnosis (PGD) available?

Furthermore, if screening and/or testing is available, the healthcare provider has the responsibility of deciding whether to recommend testing which may or may not detect patients who are carriers or affected with one or more disorders.

Resources:https://csrf.net/ 

Autism Spectrum Disorders – Lymphangioleiomyomatosis

© 2018, GENASSIST, Inc.

By Keith S. Wexler, MBA, CFO, CIO – 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

Autism Spectrum Disorders – Lymphangioleiomyomatosis is rare type of lung disease that is more common in women and is characterized by:

  • Learning disabilities
  • Developmental disabilities
  • Autism

Lymphangioleiomyomatosis and Tuberous Sclerosis Type I have been attributed to mutations in the TSC1 gene on chromosome 9q36 or TSC2 gene on chromosome 16p13.3.

Lymphangioleiomyomatosis is believed to be inherited in an autosomal dominant manner (50%). Tuberous Sclerosis Type 1 and Tuberous Sclerosis Type 2 are also inherited in an autosomal dominant manner.

It is estimated that there are between 4,000 and 20,000 diseases (with over 7000 rare genetic diseases) and several companies are offering screening panels for the carrier state of several hundred conditions and the possible predisposition for various cancers including some hematologic and neurologic malignancies.

Analysis: One of the greatest dilemmas facing the healthcare provider is when a family presents with a positive family history of a very rare genetic disease and/or syndrome (e.g. Lymphangioleiomyomatosis) and the family wants to know from the healthcare provider:

  • Whether the disease and/or syndrome is inherited (autosomal dominant manner (50%), autosomal recessive (25% if both parents are gene carriers) or sex (X) linked (50% of males will be affected, 50% of females will be carriers), multifactorial (interaction of multiple genes with the environmental, both genetic and non-genetic factors)?
  • Whether the disease and/or syndrome is sporadic (due to a new mutation) and might or might not reoccur in a family?
  • Whether the disease is caused by a Microdeletion?
  • Whether there is testing for the disease and/or syndrome?
  • If there is testing, is prenatal diagnosis and/or Preimplantation Genetic Diagnosis (PGD) available?

Furthermore, if screening and/or testing is available, the healthcare provider has the responsibility of deciding whether to recommend testing which may or may not detect patients who are carriers or affected with one or more disorders.

Resources:https://www.thelamfoundation.org/

 

Autism Spectrum Disorders – PTEN Tumor Syndromes

© 2018, GENASSIST, Inc.

By Keith S. Wexler, MBA, CFO, CIO – 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 

Autism Spectrum Disorders – Hamartoma Tumor Syndromes are characterized by:

  • Overgrowth
  • Benign or malignant tumors
  • Developmental delay
  • Autism Spectrum Disorders

Hamartoma Tumor Syndromes are believed to be sporadic or can inherited in an autosomal dominant manner (50%) and have an increased risk for the development of malignancy.

Bannayan-Riley-Ruvalcaba Syndrome is one of the disorders with *PTEN gene (a tumor suppressor gene) deletions or mutations on chromosome 10q23.3 included in the PTEN Hamartoma Tumor Syndrome which includes: 

  • Cowden Syndrome
  • PTEN Related Proteus Syndrome
  • PTEN Associated Adult Lhermitte-Duclos Syndrome also called Cowden-Lhermitte-Duclos Syndrome (COLD Syndrome)

*In children PTEN mutations are absent. Bannayan-Riley-Ruvalcaba Syndrome may present with: 

  • Macrocephaly (enlarged head)
  • Autoimmune thyroiditis (Hashimoto’s Thyroiditis)
  • Fatty tumors (lipomas)
  • Non-cancerous tumors

Bannayan-Riley-Ruvalcaba Syndrome is inherited in an autosomal dominant manner (50%).Cowden-Lhermitte-Duclos Syndrome may present with:

  • Overgrowth
  • Enlarged brain
  • Extra fingers and/or toes
  • Large tongue
  • Predisposition toward the development of a slow growing tumor of the cerebellum

Cowden-Lhermitte-Duclos Syndrome is inherited in an autosomal dominant manner (50%).

It is estimated that there are between 4,000 and 20,000 diseases (with over 7000 rare genetic diseases) and several companies are offering screening panels for the carrier state of several hundred conditions and the possible predisposition for various cancers including some hematologic and neurologic malignancies.

Analysis: One of the greatest dilemmas facing the healthcare provider is when a family presents with a positive family history of a very rare genetic disease and/or syndrome (e.g. Hamartoma Tumor Syndromes) and the family wants to know from the healthcare provider:

  • Whether the disease and/or syndrome is inherited (autosomal dominant manner (50%), autosomal recessive (25% if both parents are gene carriers) or sex (X) linked (50% of males will be affected, 50% of females will be carriers), multifactorial (interaction of multiple genes with the environment, both genetic and non-genetic factors)?
  • Whether the disease and/or syndrome is sporadic (due to a new mutation) and might or might not reoccur in a family?
  • Whether the disease is caused by a Microdeletion?
  • Whether there is testing for the disease and/or syndrome?
  • If there is testing, is prenatal diagnosis and/or Preimplantation Genetic Diagnosis (PGD) available?

Furthermore, if screening and/or testing is available, the healthcare provider has the responsibility of deciding whether to recommend testing which may or may not detect patients who are carriers or affected with one or more disorders.

Autism Spectrum Disorders – Guanidinoacetate Methyltransferase Deficiency

© 2018, GENASSIST, Inc.

By Keith S. Wexler, MBA, CFO, CIO – 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

Autism Spectrum Disorders – Guanidinoacetate Methyltransferase Deficiency is characterized by:

  • Intellectual disability
  • Hyperactivity
  • Autism-like Behaviors
  • Seizures
  • Occasional balance problems

Mutations in the GAMT gene on chromosome 19p13.3 have been described.

Guanidinoacetate Methyltransferase Deficiency is believed to be inherited in an autosomal recessive manner (25% if both parents are gene carriers).

It is estimated that there are between 4,000 and 20,000 diseases (with over 7000 rare genetic diseases) and several companies are offering screening panels for the carrier state of several hundred conditions and the possible predisposition for various cancers including some hematologic and neurologic malignancies.

Analysis: One of the greatest dilemmas facing the healthcare provider is when a family presents with a positive family history of a very rare genetic disease and/or syndrome (e.g. Guanidinoacetate Methyltransferase Deficiency) and the family wants to know from the healthcare provider: 

  • Whether the disease and/or syndrome is inherited (autosomal dominant manner (50%), autosomal recessive (25% if both parents are gene carriers) or sex (X) linked (50% of males will be affected, 50% of females will be carriers), multifactorial (interaction of multiple genes with the environment, both genetic and non-genetic factors)?
  • Whether the disease and/or syndrome is sporadic (due to a new mutation) and might or might not reoccur in a family?
  • Whether the disease is caused by a Microdeletion?
  • Whether there is testing for the disease and/or syndrome?
  • If there is testing, is prenatal diagnosis and/or Preimplantation Genetic Diagnosis (PGD) available?

Furthermore, if screening and/or testing is available, the healthcare provider has the responsibility of deciding whether to recommend testing which may or may not detect patients who are carriers or affected with one or more disorders.

Resources:https://creatineinfo.org/gamt/ 

Autism Spectrum Disorders – Brugada Syndrome

© 2018, 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

Autism Spectrum Disorders – Brugada Syndrome is a condition usually inherited in an autosomal dominant manner (50%) in which there is an irregular heart rhythm usually originating in the large chambers of the heart (ventricles).

  • It is more common in males
  • The anatomy of the heart is usually normal

Brugada Syndrome can cause fainting and can be life threatening. 

  • The prevalence is approximately 5 per 10,000

The arrhythmia may be responsible for up to 20% of sudden deaths in patients with otherwise normal hearts.

Mutations in as many as 23 genes have been described in some cases of Brugada Syndrome and can also be a cause of Autism Spectrum Disorders.

It is estimated that there are between 4,000 and 20,000 diseases (with over 7000 rare genetic diseases) and several companies are offering screening panels for the carrier state of several hundred conditions and the possible predisposition for various cancers including some hematologic and neurologic malignancies.

Analysis: One of the greatest dilemmas facing the healthcare provider is when a family presents with a positive family history of a very rare genetic disease and/or syndrome (e.g. Brugada Syndrome) and the family wants to know from the healthcare provider:

  • Whether the disease and/or syndrome is inherited (autosomal dominant manner (50%), autosomal recessive (25% if both parents are gene carriers) or sex (X) linked (50% of males will be affected, 50% of females will be carriers), multifactorial (interaction of multiple genes with the environment, both genetic and non-genetic factors)?
  • Whether the disease and/or syndrome is sporadic (due to a new mutation) and might or might not reoccur in a family?
  • Whether the disease is caused by a Microdeletion?
  • Whether there is testing for the disease and/or syndrome?
  • If there is testing, is prenatal diagnosis and/or Preimplantation Genetic Diagnosis (PGD) available?

Furthermore, if screening and/or testing is available, the healthcare provider has the responsibility of deciding whether to recommend testing which may or may not detect patients who are carriers or affected with one or more disorders.  

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