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Table 1 Main clinical findings in patients with microdeletions of 9q33.3-q34.1

From: Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

  Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Campbell et al. 2012 [11] (patient 3) Campbell et al. 2012 [11] (patient 10) Saitsu et al. 2008 [1] (patient 1) Saitsu et al. 2012 [12] (Patient 2231a) Mignot et al. 2011 [13] (patient 3)
Deletion size 1.76 Mb 1.20 Mb 432 kb 4.13 Mb 1.23 Mb 2.65 Mb 830 kb 2.10 Mb 2.85 Mb 3.3 Mb
ISCN 2013 arr [hg19] 9q33.3q34.11 (129,463,613–131,224,189) × 1 arr [hg19] 9q33.3q34.11 (129,630,976–130,833,333) × 1 arr [hg19] 9q33.3 (129,688,382–130,120,163) × 1 arr [hg19] 9q33.3q34.11 (128,870,221–132,995,660) × 1 arr [hg19] 9q33.3q34.11 (129,950,179–131,180,179) × 1 arr [hg19] 9q33.3q34.11 (129,473,714–131,633,299) × 1 arr [hg19] 9q33.3q34.11 (129,843,508–130,681,956) × 1 arr [hg19] 9q33.3q34.11 (129,060,488–131,199,630) × 1 arr [hg19] 9q33.3q34.11 (129,980,488–132,830,579) × 1 n.r. del 9q33.3–q34.11
Affected genes RALGPS1, ANGPTL2, GARNL3 + 48 RefSeq genes incl. STXBP1 RALGPS1, ANGPTL2, GARNL3 + 28 RefSeq genes incl. STXBP1 RALGPS1, ANGPTL2, GARNL3 RALGPS1, ANGPTL2, GARNL3 + 92 RefSeq genes incl. STXBP1 RALGPS1, GARNL3 + 45 RefSeq genes incl. STXBP1 RALGPS1, ANGPTL2, GARNL3 + 58 RefSeq genes incl. STXBP1 RALGPS1, ANGPTL2, GARNL3 + 22 RefSeq genes incl. STXBP1 RALGPS1, ANGPTL2, GARNL3 + 50 RefSeq genes incl. STXBP1 RALGPS1, GARNL3 + 86 RefSeq genes incl. STXBP1 RALGPS1, ANGPTL2, GARNL3 + > 9 RefSeq genes incl. STXBP1
Origin De novo De novo Maternal De novo De novo De novo De novo De novo De novo De novo
Age 3 y 5 y 6 y 5 y, 6 mo 11 y, 7 mo 6 y 6 y 2 y, 11 mo 1 y, 7 mo 10 y
Sex Female Male Female Female Female male Male Female Male Female
Birth parameters Length <10th centile <3rd centile 25th centile 10th centile ND n.r. n.r. −2.3 SD Normal ~10th centile (est.)
Weight 10th centile 3rd centile 50th centile 10th centile 0.4th–2nd centile n.r. n.r. −2.4 SD Normal ~10th centile (est.)
OFC <3rd centile <3rd centile 10th centile 10th centile ND n.r. n.r. −0.8 SD Normal ND
Growth parameters (at examination) Height 10th centile 4.5 cm < 3rd centile ~6 cm < 3rd centile 3rd centile 0.4th centile n.r. n.r. <−2SDa n.r. 10th centile
Weight 25–50th centile 10th centile 10–25th centile 10th centile 25th centile n.r. n.r. <−2SDa n.r. 75–90th centile
OFC ~1.5 cm < 3rd centile 2 cm < 3rd centile ~0.5 cm < 3rd centile 10th centile <0.4th centile n.r. n.r. 40.0 cm (<< 3rd centile)a −3SD 50–75th centile
Microcephaly + + + + + n.r.. n.r. + +
Intellectual disability + + + + + + + + + +
Speech Delayed (only syllables) No speech No speech (some syllables and cries) No speech Delayed (few words) Severely impaired Severely impaired No speech n.r. Delayed (few words)
Walking No (no crawling/sitting/standing) Yes (only with assistance) Yes (walking age 22 mo) No Yes (walking age 4 y) n.r. n.r. No n.r. No
Seizures + + + + + +
EEG Pathologic Pathologic Normal Pathologic Normal Right temporal spikes Normal Suppression-burst pattern Suppression-burst pattern Disorganized background activity, multifocal spikes, spike and spike-wave bursts
Brain MRI Mildly delayed myelination Delayed myelination, unilateral temporal closed lip schizence-phaly Bilateral temporo-occipital pachygyria with heterogenous “nodules” of grey Normal Normal Chiari type I malformation Normal Cortical atrophy, diffuse hypomyeli-nation, thin corpus callosum, cerebellum and brain stem atrophy (at 12 mo) Thin corpus callosum, relatively small cerebellum (2 mo) Global atrophy of cerebral hemispheres
Muscular hypotonia + + + + + + + + n.r. n.r.
Dysmorphisms Round face, high frontal hairline, telecanthus, upslanting palpebral fissures, short nose with depressed bridge, thin upper lip, low-set ears with attached lobules, short neck, tapering fingers with ridged nails, talipe equinus Arched eyebrows, slightly upslanting palpebral fissures, smooth philtrum, widely-spaced teeth, thin upper lip Short nose, anteverted nares, high frontal hairline, dimple chin, talus valgus bilateral Arched eyebrows, telecanthus, horizontal palpebral fissures, flat nasal bridge, retrognathia, bilateral 5th finger clinodactyly, 1st fingers: absent nails, talipe equinus Round face, round eyes, long eyelashes, short nose, thin upper lip, slightly everted lower lip, small hands and feet Dysmorphic features Mild dysmorphic features n.r. Midface hypoplasiaa dysmorphic features
Ocular findings Strabismus Strabismus, hypermetropia Strabismus Strabismus, retinopathy of prematurity, bilateral microphtalmia Strabismus Strabismus n.r. n.r. n.r.
Behavior Bruxism Cheerful mannerism Autistic features, stereotypic hand movements ND Hyperactive, sleep difficulties n.r. n.r. n.r. n.r. Stereotypies
Other findings Recurrent otitis media, lack of pain sensation Hypotonic-ataxic movement disorder Recurrent otitis media, failure to thrive Forearm malformation, non-ossified and dislocated patellae, nephropathy Trunk and gait ataxia, pes planovalgus, celiac disease, overweight   Ataxia Spastic quadriplegia Cleft lip/palate, ventricular septal defect, overlapping fingers, small penis, spastic quadriplegia, multiple arthrogryposis Absent thumbnails, nails of 2nd fingers hypoplastic
  1. Summary of patient phenotypes and deletions
  2. est. estimated, ND not determined, n.r. not reported, OFC occipitofrontal circumference, SD standard deviation, + present, – absent, y years, mo months
  3. aPersonal communication. Recurrent dysmorphisms and ocular findings are italicized