Defining a novel cause of failure to thrive and developmental delay

Tuesday, October 25, 2011 — Poster Session II
Noon – 2:00 p.m.	Natcher Conference Center	NHGRI	GEN/GENOM-11

Authors

• V Maduro
• N Tarazi
• H Dorward
• R Wersto
• J Mullikin
• R Legaspi
• NISC Comparative Sequencing Program
• W Gahl
• C Boerkoel

Abstract

Failure to thrive is seen in up to 10% of infants and is often associated with developmental delay. The molecular pathophysiology of these problems is poorly understood and can be advanced through the study of syndromes. We present a patient with hypotonia, severe failure to thrive, developmental delays, poor brain myelination, dysmorphic features and seizures causing hemiparesis. Metabolic and endocrine analyses showed normal results. Interestingly, chromosome analysis and sequencing show a de novo translocation (6;12)(q25.1;q12) within intron 4 of the SLC2A13 gene, which encodes a membrane channel in the Golgi apparatus, and intron 6 of LOC729178, which encodes a noncoding mRNA. RT-PCR studies show nearly complete loss of mRNA transcription from the untranslocated allele of SLC2A13. Current studies focus on defining the basis for loss of expression from the untranslocated allele. Based on the localization and proposed function of SLC2A13, we suggest that deficiency of this channel causes poor growth by affecting vesicular trafficking or protein modification. To the best of our knowledge, this is the first description of human SLC2A13 deficiency; this discovery provides insights into the biology of human growth and cognition.

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