Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome: report of a case lacking neutrophil morphologic changes and review of literature.

INTRODUCTION

Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome is a rare autosomal recessive condition associated with variants in the NBAS gene. First described in 2010, SOPH syndrome is a relatively newly recognized condition and our understanding of the range of its manifestations and the variable expressivity of its features continues to evolve. A total of 110 cases of SOPH syndrome have been published in the literature to date, 93 of which were published in two case series reporting on the Yakut population.

METHODS

Case report and review of literature.

RESULTS

We present a case of a 25-year-old female with a prior clinical diagnosis of cone-rod dystrophy, who was found to have incomplete SOPH syndrome associated with a paternally inherited splice site variant and a maternally inherited complete NBAS gene deletion. This is the first report of SOPH syndrome without Pelger-Huët anomaly.

DISCUSSION: Our case expands the phenotypic and genetic spectrum of SOPH syndrome. Similarly to many other syndromic conditions, SOPH can display variable expressivity of disease features. Furthermore, our patient's complete deletion of one copy of the NBAS gene provides a unique opportunity to investigate in isolation the effects of the NBAS splice site variant found on the other allele.