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© Research
Publication : European journal of medical genetics

Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in European journal of medical genetics - 01 Sep 2021

Rjiba K, Soyah N, Kammoun M, Hadj Hmida I, Saad A, Mcelreavey K, Mougou-Zerelli S

Link to Pubmed [PMID] – 34229114

Link to DOI – S1769-7212(21)00151-810.1016/j.ejmg.2021.104285

Eur J Med Genet 2021 Sep; 64(9): 104285

Recently, an autosomal recessive disorder including the triad of microcephaly, infantile epileptic encephalopathy, and permanent neonatal diabetes syndrome (MEDS, OMIM#614231) has emerged as a new distinguishing syndrome. Eight cases of whom seven from Arab countries, have been reported in association with biallelic variants in the IER3IP1 gene (Immediate early response-3 interacting protein-1). Here, we describe a Tunisian boy who presented with permanent neonatal diabetes, microcephaly, generalized seizures and hypovirilized external genitalia consisting of a small genitalia and unilateral cryptorchidism. Chromosomal analysis indicated a 46, XY karyotype in all metaphases. Exome sequencing identified a homozygous missense variant (c.62 T > G; p. Val21Gly) in the IER3IP1 gene, that is predicted to alter the protein structure within the hydrophobic/transmembrane. This variant was previously reported in two cases associated with MEDS. This is the first reported case of MEDS in Tunisia. Our report focuses on the IER3IP1 related phenotypic spectrum and assumes abnormal genitalia as part of the syndrome. Consequently, we recommend to perform hormonal testing on this topic to understand the effect of the IER3IP1 variant on the male genital pathway.

https://pubmed.ncbi.nlm.nih.gov/34229114