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Hypomyelination and congenital cataract

Reviewed July 2009

What is hypomyelination and congenital cataract?

Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the lens (cataract) in both eyes.

People with this condition usually have normal development throughout the first year of life. Development slows around the age of 1. Most affected children learn to walk between the ages of 1 and 2, although they usually need some type of support. Over time they experience muscle weakness and wasting (atrophy) in their legs, and many affected people eventually require wheelchair assistance. Weakness in the muscles of the trunk and a progressive abnormal curvature of the spine (scoliosis) further impair walking in some individuals. Most people with hypomyelination and congenital cataract have reduced sensation in their arms and legs (peripheral neuropathy). In addition, affected individuals typically have speech difficulties (dysarthria) and mild to moderate intellectual disability.

How common is hypomyelination and congenital cataract?

The prevalence of hypomyelination and congenital cataract is unknown.

What genes are related to hypomyelination and congenital cataract?

Mutations in the FAM126A gene cause hypomyelination and congenital cataract. The FAM126A gene provides instructions for making a protein called hyccin, the function of which is not completely understood. Based on the features of hypomyelination and congenital cataract, researchers presume that hyccin is involved in the formation of myelin throughout the nervous system. Hyccin is also active in the lens of the eye, the heart, and the kidneys. It is unclear how mutations in the FAM126A gene cause cataracts.

Most FAM126A gene mutations that cause hypomyelination and congenital cataract prevent the production of hyccin. People who cannot produce any hyccin have problems forming myelin, leading to the signs and symptoms of this condition.

People who have mutations that allow some protein production tend to have milder symptoms than those who produce no protein. These individuals typically retain the ability to walk longer, although they still need support, and they usually do not have peripheral neuropathy.

Related Gene(s)

Changes in this gene are associated with hypomyelination and congenital cataract.

  • FAM126A

How do people inherit hypomyelination and congenital cataract?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of hypomyelination and congenital cataract?

These resources address the diagnosis or management of hypomyelination and congenital cataract and may include treatment providers.

  • Gene Review: Hypomyelination and Congenital Cataract (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hypo-mcc)
  • Gene Tests: Hypomyelination and Congenital Cataract (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/289607)
  • MedlinePlus Encyclopedia: Congenital Cataract (http://www.nlm.nih.gov/medlineplus/ency/article/001615.htm)
  • MedlinePlus Encyclopedia: Muscle Atrophy (http://www.nlm.nih.gov/medlineplus/ency/article/003188.htm)

You might also find information on the diagnosis or management of hypomyelination and congenital cataract in Educational resources (http://ghr.nlm.nih.gov/condition/hypomyelination-and-congenital-cataract/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/hypomyelination-and-congenital-cataract/show/Patient+support).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about hypomyelination and congenital cataract?

You may find the following resources about hypomyelination and congenital cataract helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Encyclopedia: Congenital Cataract (http://www.nlm.nih.gov/medlineplus/ency/article/001615.htm)
    • Encyclopedia: Muscle Atrophy (http://www.nlm.nih.gov/medlineplus/ency/article/003188.htm)
    • Health Topic: Leukodystrophies (http://www.nlm.nih.gov/medlineplus/leukodystrophies.html)
    • Health Topic: Peripheral Nerve Disorders (http://www.nlm.nih.gov/medlineplus/peripheralnervedisorders.html)
    • Health Topic: Scoliosis (http://www.nlm.nih.gov/medlineplus/scoliosis.html)

  • Additional NIH Resources - National Institutes of Health

    • National Eye Institute: Cataract (http://www.nei.nih.gov/health/cataract/cataract_facts.asp)
    • National Institute of Neurological Disorders and Stroke: Peripheral Neuropathy Fact Sheet (http://www.ninds.nih.gov/disorders/peripheralneuropathy/detail_peripheralneuropathy.htm)

  • Educational resources - Information pages

    • Children's Hospital Boston: Cataracts (http://www.childrenshospital.org/az/Site666/mainpageS666P0.html)
    • Children's Hospital Boston: Nervous System Disorders (http://www.childrenshospital.org/az/Site1344/mainpageS1344P0.html)
    • Cleveland Clinic: Cataracts in Children (http://my.clevelandclinic.org/childrens-hospital/health-info/diseases-conditions/eyecare/hic-cataracts-in-children.aspx)
    • Cleveland Clinic: Peripheral Neuropathy (http://my.clevelandclinic.org/disorders/Neuropathy_Peripheral/hic_Peripheral_Neuropathy.aspx)
    • Merck Manual Home Edition for Patients and Caregivers: Cataract (http://www.merckmanuals.com/home/eye_disorders/cataract/cataract.html)
    • New York Online Access to Health (NOAH): Cataracts (http://www.noah-health.org/en/eye/disorders/cataracts.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=85163)

  • Patient support - For patients and families

    • Blind Babies Foundation (http://blindbabies.org/)
    • Family Village: Cognitive Disability/Mental Retardation (http://www.familyvillage.wisc.edu/lib_cdmr.htm)
    • Lighthouse International (http://www.lighthouse.org/)
    • Prevent Blindness America: Cataract (http://preventblindness.org/cataract)
    • The Foundation Fighting Blindness (http://www.ffb.ca/index.html)
    • The Myelin Project (http://www.myelin.org/)
    • United Leukodystrophy Foundation (http://ulf.org/)
    • University of Kansas Medical Center Resource List: Developmental Delay/Mental Retardation (http://www.kumc.edu/gec/support/devdelay.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hypo-mcc)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/289607)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((hypomyelination%5BTIAB%5D)%20AND%20(congenital%20cataract))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/610532)

What other names do people use for hypomyelination and congenital cataract?

  • HCC

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about hypomyelination and congenital cataract?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding hypomyelination and congenital cataract?

atrophy ; autosomal ; autosomal recessive ; cataract ; cell ; congenital ; dysarthria ; gene ; kidney ; leukoencephalopathy ; mutation ; nervous system ; neuropathy ; peripheral ; peripheral neuropathy ; prevalence ; protein ; recessive ; scoliosis ; sign ; symptom ; wasting ; white matter

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C. Phenotypic characterization of hypomyelination and congenital cataract. Ann Neurol. 2007 Aug;62(2):121-7. (http://www.ncbi.nlm.nih.gov/pubmed/17683097?dopt=Abstract)
  • Rossi A, Biancheri R, Zara F, Bruno C, Uziel G, van der Knaap MS, Minetti C, Tortori-Donati P. Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. AJNR Am J Neuroradiol. 2008 Feb;29(2):301-5. Epub 2007 Nov 1. (http://www.ncbi.nlm.nih.gov/pubmed/17974614?dopt=Abstract)
  • Ugur SA, Tolun A. A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. Eur J Hum Genet. 2008 Feb;16(2):261-4. Epub 2007 Oct 10. (http://www.ncbi.nlm.nih.gov/pubmed/17928815?dopt=Abstract)
  • Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet. 2006 Oct;38(10):1111-3. Epub 2006 Sep 3. (http://www.ncbi.nlm.nih.gov/pubmed/16951682?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2009
Published: May 21, 2012