Mutations in histone acetyltransferase KAT6B cause Genitopatellar syndrome.

• March 20th, 2012

Sorry to blow my own horn but I’m quite passionate about the findings described below. Late last year, the group of Clayton-Smith et al. identified mutations in KAT6B in Ohdo syndrome, a condition characterized by blepharophimosis and developmental delay.

Shortly after, our group and the group of Simpson et al. identified mutations in the same gene in Genitopatellar syndrome, characterized by genital and patellar anomalies.

The developmental roles of this histone acetyltransferase are only beginning to be understood but it seems quite important for neurogenesis and skeletal development. The genotype-phenotype correlations are also fascinating. Both conditions are caused by de novo truncating mutations. While there is clinical overlap between the two conditions, there are also many differences, and there seems to be a clustering of the mutations which cause Genitopatellar syndrome. We are currently exploring the correlations and the impact of the mutations on the protein.

http://www.ncbi.nlm.nih.gov/pubmed/22077973
http://www.ncbi.nlm.nih.gov/pubmed/22265014
http://www.ncbi.nlm.nih.gov/pubmed/22265017

Posted by Philippe Campeau, MD

Enzyme replacement therapy in ectodermal dysplasia

• October 2nd, 2007

Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia

Margret L. Casal, John R. Lewis, Elizabeth A. Mauldin, Aubry Tardivel, Karine Ingold,
Manuel Favre, Fabrice Paradies,* Ste´phane Demotz, Olivier Gaide, and Pascal Schneider

The American Journal of Human Genetics, volume 81 (2007)
This paper describes the application of enzyme replacement therapy for X-linked hypohidrotic ectodermal dysplasia in dogs. Ectodysplasin A fused to the Fc portion of human immunoglobulin G1 was administered to the dogs in th neonatal period. This treatment improved the teeth  weight gain, restored lacrimation, preventing eye infections and keratoconjuctivitis sicca, induced the formation of moderate numbers of functional sweat glands, and significantly improved mucociliary clearance in the respiratory tract that correlated with the marked decrease of pulmonary diseases in the treated dogs.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Phenotypic variability of Shwachman–Bodian–Diamond syndrome gene mutations

• March 31st, 2007

Mutations in the Shwachman–Bodian–Diamond syndrome gene mutations can also give rise to a neonatal for of spondylometaphysial dysplasia.

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
Gen Nishimura, Eiji Nakashima, Yuichiro Hirose, Trevor Cole, Phillip Cox, Daniel H Cohn, David L Rimoin, Ralph S Lachman, Yoshinari Miyamoto, Bronwyn Kerr, Sheila Unger, Hirofumi Ohashi, Andrea Superti-Furga and Shiro Ikegawa
Journal of Medical Genetics 2007;44:e73; doi:10.1136/jmg.2006.043869
 

Abase: Anthropometry on handheld computers

• May 14th, 2006

This free powerful tool for handheld computers (PDAs), devised by Andreas Zankl, permits you to plot anthropometric data on your hand held (height, weight, head circumference, eyes, ears, nose, mouth, chest, hands, feet). It compares your values to accepted reference values for USA, Canada, UK or Switzerland. The results are displayed in centiles, standard deviations or graphs. It is a must have for the busy geneticist.

Please visit www.medgen.unizh.ch/abase/ for more information.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator