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A NEW GENE RESPONSIBLE FROM MOLAR TOOTH SIGN AND CLEFT PALATE: PYRUVATE DEHYDROGENASE PHOSPHATASE REGULATORY SUBUNIT (PDPR).

Recently array CGH technique has been proven to be a method of gene discovery.

To detect a region of microdeletion/duplication in a case of mental reterdation and dysmorphism which could yield to the discovery of a gene responsible for the disease.

8-day old male baby was referred to or center because of complete median cleft palate and facial dysmorphism. He was shown to have right eye retinal coloboma in association with right eye pitosis. A brain MRI showed severe vermis hypoplasia, molar tooth sign, agenesis of corpus callosum, retrocerebellar enlargement (variant Dandy Walker syndrome?) and colpocephaly. His echocardiographic examination was normal and no other malformation was observed. On clinical grounds he was diagnosed as Joubert or Joubert like syndrome. However Ciliome sequencing with a panel of genes relevant to Joubert syndrome revealed no pathogenic variation.

An array-CGH was performed and a microdeletion of 136kb at chromosome 16q22.1 was detected. The deleted region involved a new gene that could be responsible for the clinical manifestations including cleft palate and Molar tooth sign, pyruvate dehydrogenase phosphatase regulatory subunit (PDPR). PDPR is involved in the regulation of pyruvate dehydrogenase (PDH) complex which is crucial for glucose conservation when glucose is scarce. Adequate PDH activity is required to allow both ATP and fatty acid production from glucose.

We suggest that PDPR is a new gene responsible for cleft palate and molar tooth sign and possibly presents a variant of Joubert syndrome.

Gonul Ogur (1,2), Ummet Abur (1), Engin Altundag (1), Aysegul Yilmaz (2), Hatice Mutlu Albayrak (2), Tania Attie-Bitach (3)

(1) Department of Medical Genetics, Ondokuz Mayis University Medical Faculty, Samsun, Turkey

(2) Department of Pediatric Genetics, Ondokuz Mayis University Medical Faculty Samsun, Turkey

(3) Hopital Necker-Enfants Malades et Institut Imagine, Paris, France

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Title Annotation:Poster Presentation Abstracts
Author:Ogur, Gonul; Abur, Ummet; Altundag, Engin; Yilmaz, Aysegul; Albayrak, Hatice Mutlu; Attie-Bitach, Ta
Publication:Erciyes Medical Journal
Article Type:Brief article
Date:Jun 1, 2017
Words:292
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