Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling

Add time:08/13/2019    Source:sciencedirect.com

Presently 3,527 different clinical variants of DMD are reported with various forms of dystrophinopathy. We genetically evaluated 260 dystrophinopathy patients from Turkey. Karyotyping as an initial test in female patients, followed stepwise by multiplex ligation-dependent probe amplification, and by targeted next-generation sequencing of DMD in our cohort revealed definitive genetic diagnoses in 214 patients (82.3%), with gross deletions/duplications in 153 (58.8%) and pathogenic sequence variants in 60 (23.1%). Seven of the gross and 27 of the sequence variants found novel. In silico prediction, co-segregation and transcript assays supported the pathogenic nature of the novel silent (p.Lys534=) and the splice site (c.4345-12C>G) alterations. In our cohort of 189 singleton cases, 154 (81.5%) had pathogenic variants, and 138 of those had maternal carrier testing disclosing 66.1% of gross (68/103 subjects) and 31.4% of small (11/35 subjects) variant carriers were born to uncarrier mothers, suggesting that de novo occurrences in DMD appear approximately 2.1 times more in frequency in meiotic unequal crossing-over than in uncorrected replication errors. Our study also disclosed three mothers as obligate gonadal mosaic carriers. Family-based investigation of dystrophinopathy patients is crucial for the ascertainment of novel or rare variants and also for counseling and follow-up care of the families.

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