A novel microdeletion involving the 13q31.3–q32.1 region in a patient with normal intelligence

Valdés-Miranda, Juan M; Soto-Alvarez, Jose Ramon; Toral-López, Jaime; González-Huerta, Luz María; Pérez-Cabrera, Adrián; Gonzalez-Monfil, Georgina; Messina-Bass, Olga; Cuevas-Covarrubias, Sergio A.

doi:10.1016/j.ejmg.2014.01.006

Cited by 9 publications

(9 citation statements)

References 12 publications

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“…Our patient presented with a congenital heart defect and hearing loss, two features occasionally seen in Feingold syndrome‐1 patients. A patient reported by Valdes‐Miranda et al [] with a 4.56 Mb deletion over a region similar to the one deleted in our patient also had a congenital heart defect (not specified) and moderate sensorineural hearing loss. A second patient reported by Low et al [] with a 3 Mb deletion had tetralogy of Fallot.…”

Section: Discussionsupporting

confidence: 67%

“…We present a male patient with a unique, de novo, 13q31.3 interstitial deletion encompassing the entire MIR17HG gene. Ten individuals with deletions of this gene have been previously reported to have Feingold syndrome‐2 with associated microcephaly, short stature, digital anomalies, and learning disabilities [De Pontual et al, ; Sharaidin et al, ; Tassano et al, ; Ganjavi et al, ; Valdes‐Miranda et al, ; Low et al, ]. Of note, there have also been 18 copy number variants (CNV) with deletions encompassing MIR17HG recorded in the DECIPHER database, with sizes varying from 0.18 to 95.66 Mb.…”

Section: Discussionmentioning

confidence: 99%

“…Additional characteristics which may also be present include dysmorphic features, heart and kidney defects, learning disabilities, and hearing loss [Feingold et al, ; Celli et al, ; Marcelis et al, ]. Recently, 10 individuals with the clinical diagnosis of Feingold syndrome‐2 (MIM 614326) who have deletions involving MIR17HG , a gene responsible for encoding the miR‐17∼92 polycistronic miRNA cluster, have been described [De Pontual et al, ; Tassano et al, ; Sharaidin et al, ; Valdes‐Miranda et al, ; Ganjavi et al, ; Low et al, ]. These 10 patients all have microcephaly, short stature, brachymesophalangy, and learning disabilities.…”

Section: Introductionmentioning

confidence: 99%

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Expanding the phenotype of feingold syndrome‐2

Grote

Repnikova

Amudhavalli

2015

American J of Med Genetics Pt A

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Feingold syndrome-2 has been recently shown to be caused by germline heterozygous deletions of MIR17HG with 10 reported patients to date. Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias. Here we describe a 14-year-old male patient who presented to our Cardiovascular Genetics Clinic with a history of a bicuspid aortic valve with aortic stenosis, short stature, hearing loss, and mild learning disabilities. Upon examination he was noted to have dysmorphic features and brachydactyly of his fingers and toes. His head circumference was 54.5 cm (25th-50th centile) and his height was 161.3 cm (31st centile) after growth hormone therapy. A skeletal survey noted numerous abnormalities prompting suspicion for Feingold syndrome. A comparative genomic hybridization microarray was completed and a ∼3.6 Mb interstitial heterozygous deletion at 13q31.3 including MIR17HG was found consistent with Feingold syndrome-2. Clinically, this patient has the characteristic digital anomalies and short stature often seen in Feingold syndrome-2 with less common features of a congenital heart defect and hearing loss. Although non-skeletal features have been occasionally reported in Feingold syndrome-1, only one other patient with a 13q31 microdeletion including MIR17HG has had non-skeletal manifestations. Additionally, our patient does not have microcephaly and, to our knowledge, is the first reported pediatric patient with Feingold syndrome-2 without this feature. This report illustrates significant phenotypic variability within the clinical presentation of Feingold syndrome-2 and highlights considerable overlap with Feingold syndrome-1.

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Section: Discussionsupporting

confidence: 67%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Expanding the phenotype of feingold syndrome‐2

Grote

Repnikova

Amudhavalli

2015

American J of Med Genetics Pt A

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“…Phenotypically, the absence of gastrointestinal atresia in FG2 is the major distinguishing feature between FG1 and FG2. Additional features of FG2 may include hearing impairment and cardiac anomalies including bicuspid aortic valve with aortic valve stenosis and Tetralogy of Fallot (Grote, Repnikova, & Amudhavalli, ; Low, Buxton, & Newbury‐Ecob, ; Valdes‐Miranda et al, ). It has been suggested that the overlapping phenotypes of FG1 and FG2 may be due to miR‐17~92 (one of the microRNAs produced by MIR17HG ) mediating the action of MYCN (de Pontual et al, ).…”

Section: Introductionmentioning

confidence: 99%

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

Muriello

Kim

Schatz

et al. 2019

American J of Med Genetics Pt A

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We report three patients with Feingold 2 syndrome with the novel features of growth hormone deficiency associated with adenohypophyseal compression, aortic dilation, phalangeal joint contractures, memory, and sleep problems in addition to the typical features of microcephaly, brachymesophalangy, toe syndactyly, short stature, and cardiac anomalies. Microdeletions of chromosome 13q that include the MIR17HG gene were found in all three. One of the patients was treated successfully with growth hormone. In addition to expanding the phenotype of Feingold 2 syndrome, we suggest management of patients with Feingold 2 syndrome include echocardiography at the time of diagnosis in all patients and consideration of evaluation for growth hormone deficiency in patients with short stature.

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“…Lele et al (1963) first described a partial deletion of 13q in retinoblastoma patients who also displayed intellectual disabilities and global developmental delays . The 13q deletion syndrome leads to phenotypes that include short stature, microcephaly, cerebral cortical malformations, Dandy-Walker malformation (DWM), corpus callosum agenesis, meningocele/encephalocele, neural tube defects, micro-/anophthalmia, cleft lip/palate, lung hypoplasia, heart defects, genital anomalies, and hand abnormalities (Kirchhoff et al, 2009;Chen et al, 2013;Valdes-Miranda et al, 2014). In this study, we used 3 laboratory methodologies to report the first postnatal diagnosis in Central Brazil of a child with cytogenetic abnormalities involving chromosome 13.…”

Section: Introductionmentioning

confidence: 99%