PMC4650292_01
Photographs of the patient at the age of 9 months (a) 2 years: lateral (b) and frontal views (c) 5 years (d) 13 years (e) and 26 years (f, g, h). Note the long face, anteverted nares, hypertelorism, open-tended mouth and myopatic face (a-h), abnormal dentition (oversized and overlapping incisors) and gum hypertrophy (f-h)
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Fig1
Facial dymorphisms consisted of dolichocephaly, high forehead, long face, hypertelorism, epicanthic fold, anterverted nares, micrognathia, high-arched palate, abnormal dentition (oversized and overlapping incisors) and gum hypertrophy, open-tended mouth and myopathic face (Fig. 1a-f).
Representative EEG recordings: a Ictal EEG pattern (recorded at the age of 20 years during drowsiness). An EEG flattening closely related to low-voltage rapid discharge was recorded prevalently on frontal regions. EMG showed deltoid hypertonia. b Intercritical EEG pattern (recorded at the age of 26 years during drowsiness). The record shows irregular background activity. Slow abnormalities and spike-waves complexes, prevalent on anterior regions, were more evident during drowsiness and sleep
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Fig2
A tonic seizure was recorded during polysomnography at 20 years of age. (Fig. 2a). At the age of 26 years, EEG record showed irregular background activity characterized by abnormalities and spike-wave complexes, more evident during drowsiness and sleep (Fig. 2b).
PMC4650292_02
Photographs of the patient at the age of 9 months (a) 2 years: lateral (b) and frontal views (c) 5 years (d) 13 years (e) and 26 years (f, g, h). Note the long face, anteverted nares, hypertelorism, open-tended mouth and myopatic face (a-h), abnormal dentition (oversized and overlapping incisors) and gum hypertrophy (f-h)
13039_2015_193_Fig1_HTML.jpg
PMC4650292_02_13039_2015_193_Fig1_HTML.jpg
Fig1
Facial dymorphisms consisted of dolichocephaly, high forehead, long face, hypertelorism, epicanthic fold, anterverted nares, micrognathia, high-arched palate, abnormal dentition (oversized and overlapping incisors) and gum hypertrophy, open-tended mouth and myopathic face (Fig. 1a-f).
PMC4650292_03
Schematic representation of our patient's deletion compared with previously reported patients. Top. The screenshot spans 2.5 megabases of chromosome 5q13.2-q13.3. UCSC genes (GRCh37/hg19) are shown. Middle. Brown bars indicate de novo deletion of patients reported in the literature that have been characterised by molecular cytogenetics. Our case is represented by a red bar. The light red box indicates the common deleted region of ~101 Kb among patients sharing the 5q31.3 microdeletion syndrome phenotype. Bottom. Magnified view of breakpoint boundaries detected by array-CGH analysis using a 180 k Agilent kit. The deleted regions aligned with the UCSC map (hg19) are shaded in red
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Fig3
In the absence of any etiological diagnosis, array-CGH (Agilent Human Genome CGH Microarray Kit 180 k) analysis revealed a copy number loss of ~360 kb at 5q31.2q31.3 (Fig. 3). The deleted genomic region, according to the GRCh37/hg19, included PURA (located in chromosomal region 5q31.2), IGIP and CYSTM1 (both located at 5q31.3), while the proximal and distal deletion breakpoint encompassed neuregulin 2 (NRG2, located at 5q31.2) and prefoldin subunit 1 (PFDN1, located at 5q31.3) genes, respectively (Fig. 3).