Genetic Discoveries for M-CM and MPPH

We are very happy to share the following announcement from Dr. Dobyns' research study:

The first genes for M-CM and related macrocephaly syndromes have been found.

The research laboratories of Dr. William Dobyns at the Seattle Children's Research Institute and Dr. Kym Boycott at Children's Hospital of Eastern Ontario have found the first genes that cause M-CM and related macrocephaly syndromes. The work has also been organized by Dr. Ghayda Mirzaa at the University of Chicago, Dr. John M Graham at Cedars-Sinai Medical Center in Los Angeles, and Dr. Robert Conway and genetic counselor Daniela Iacoboni at Michigan State University in East Lansing, with assistance from many other physicians and families around the world.

The syndromes involved include:

  • Macrocephaly-capillary malformation syndrome (M-CM) - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) (this is the proposed new name for the M-CM syndrome based on new findings)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH)

This discovery supports our clinical impression that the MCAP (aka M-CM) and MPPH syndromes are different but very closely related conditions. However, we have found abnormalities in these first genes in only about half of children with these disorders. Thus, more research is needed to find the remaining genes that cause MCAP and MPPH, and to understand how defects in these genes cause the clinical features seen in affected children.

Our research work is continuing and we would like to enroll more families. Any families wishing to enroll in the research study should contact Hailly Butler, project coordinator for the Dobyns lab in Seattle, before sending any samples. We also plan to enroll families of children who do not meet the existing criteria for MCAP or MPPH but have overlapping features. The information and samples we will need to enroll children and families include the following:

  1. Clinical summary including history of any surgical procedures
  2. Growth charts from birth up to their current age
  3. Photographs of the affected child from early infancy up to their current age including photos that show their entire body as well as close up photos of the face, hands and feet
  4. Brain MRI scans on CDs
  5. Both blood and saliva samples on affected children, and either blood or saliva samples on parents

Finally, we may ask for additional information, reports or stored biopsy samples, and may ask for skin biopsies on some affected children after reviewing the first set of records.

Full contact information for Seattle:
Hailly Butler
Center for Integrative Brain Research
Seattle Children's Research Institute
1900 Ninth Avenue, M/S C9S-10
Seattle WA 98101