Objective: We aim to identify and describe the clinical phenotype associated with a Puerto Rican family with early-onset PD and short stature. 

Background: As few studies have been performed in Hispanic Parkinson Disease (PD) patients, we undertook to begin genetic studies in this important population. During our initial studies, we identified a family with the unusual phenotype of short stature and early-onset PD. Previous studies have identified a DJ-1 deletion in a Dutch kindred, leading to autosomal recessive early-onset Parkinsonism and short stature.  Interestingly, heterozygous carriers of the deletion presented with short stature only. DJ-1 mutations as a cause of autosomal recessive early-onset Parkinsonism and short stature in a Hispanic population have yet to be reported. 

Methods: The patient is a 51 year old female with proportionately short stature and early-onset PD (age 28). All three of her children, two males and one female, have short stature and are 28, 19 and 15 years of age. Family history was obtained. Both parents are of short stature and represent a consanguineous mating. Neither is reported to have PD.  We performed a comprehensive neurological and genetic evaluation, including anthropometric and dysmorphologic examination, as well as blood sample collection from all available family members. Genomic DNA was extracted using standard techniques and complete gene sequencing analysis of all 7 DJ-1 exons is currently underway. Next generation sequencing will be performed in the absence of DJ-1 deletions.

Results: Final molecular results are in progress.

Conclusions: Due to the similarities between the clinical presentation of the Dutch family and the Puerto Rican family, we suggest a homozygous DJ-1 deletion is likely the cause of the index patient, with her children being obligate heterozygotes. This would represent the first case in Hispanic individuals.

References: Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 10:256-259.

Dekker MC, Galjaard RJ, Snijders PJ, Heutink P, Oostra BA, van Duijn CM. Brachydactyly and short stature in a kindred with early-onset parkinsonism. Am J Med Genet A. 2004 Sep 15;130A(1):102-4.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/early-onset-parkinsonism-and-short-stature-in-a-puerto-rican-kindred-possible-dj1-deletion/