Paediatria Croatica, Vol. 61 No. 2, 2017.
Recenzija, Prikaz slučaja
https://doi.org/10.13112/PC.2017.13
Genotype-phenotype correlation of rare 17q24.1-q24.3 microdeletion
Adriana Bobinec
Ana-Maria Ivankov
Mijana Kero
Ivona Sansović
Ingeborg Barišić
Sažetak
Although chromosome 17 shows high genetic instability, interstitial deletions within 17q24 region are very rare. The phenotype of
aff ected patients is heterogeneous but generally includes microcephaly, dysmorphic features, heart defects, intellectual disability,
Andersen-Tawil syndrome and Carney complex. We present a 10-month-old proband with rare 5.4 Mb microdeletion of 17q24.1-
q24.3 region. Her main clinical manifestations include microcephaly, distinctive dysmorphic features, and hypotrophy. Among 30
deleted protein coding genes, we hypothesize that PRKCA, PSMD12, KPNA2, PRKAR1A, and KCNJ2 might be responsible for the proband’s
phenotype. Changes in PRKCA gene have been described in patients with abnormal cognitive function and haploinsuffi -
ciency of PSMD12 has been associated with neurodevelopmental disorders and dysmorphia. Deletions of KPNA2 gene, known to be
involved in Nijmegen breakage syndrome, are characterized by microcephaly, short stature, and syndactyly. PRKAR1A gene is known
to be involved in Carney complex. Haploinsuffi ciency of KCNJ2 gene in this region causes episodes of muscle weakness and arrhythmia.
So far, these symptoms have not been observed in the proband. Nevertheless, as these and additional comorbidities might develop
over time, continuous monitoring is required.
Ključne riječi
17q24.1-q24.3 microdeletion; CNV; PRKCA; PSMD12; KPNA2; PRKAR1A; KCNJ2; CMA
Hrčak ID:
201057
URI
Datum izdavanja:
22.6.2017.
Posjeta: 1.695 *