Case Report: Compound heterozygous nonsense mutations in XXXX are associated with @entity4242 , delayed development, and periventricular @entity62 .

@entity1 @entity1545 @entity154 @entity6220 @entity6 @entity75 @entity71061 @entity245 @entity281 @entity519 @entity74 @entity4242 @entity62 @entity71060 @entity19205
@entity4242 is a fairly common feature observed in @entity1 with delayed development, defined as head circumference less than 2 standard deviations below the mean for age and gender. It may be the result of an acquired insult to the brain, such prenatal or perinatal @entity1545 ( @entity281 or @entity519 ischemic @entity75 ), or be a part of a @entity74 . There are over 1000 conditions listed in OMIM (Online Mendelian Inheritance in @entity1 ) where @entity4242 is a key finding; many of these are associated with specific somatic features and non-CNS anomalies. The term primary @entity4242 is used when @entity4242 and delayed development are the primary features, and they are not part of another recognized syndrome. In this case report, we present the clinical features of siblings (brother and sister) with primary @entity4242 and delayed development, and @entity154 . Both @entity1 had brain MRI studies that showed periventricular and subcortical T2/FLAIR hyperintensities, without signs of @entity62 , and no parenchymal calcifications by CT scan. The family was enrolled in a research study for whole exome sequencing of probands and parents. Analysis of variants determined that the @entity1 were compound heterozygotes for nonsense mutations, @entity71060 (p.Arg93*) and @entity71061 (p.Arg133*), in the @entity19205 gene. Mutations in this gene have only recently been reported in @entity1 with @entity4242 and early onset @entity6 . Our report adds to current knowledge of @entity19205 related @entity245 and demonstrates imaging findings suggestive of @entity6220 in this disorder. Accurate diagnosis through genomic testing, as in the @entity1 described here, allows for early detection and management of medical complications, such as @entity6 .
