A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome

Terrone, Gaetano; Cappuccio, Gerarda; Genesio, Rita; Esposito, Annalisa; Fiorentino, Valeria; Riccitelli, M. L.; Nitsch, Lucio; Brunetti‐Pierri, Nicola; Giudice, Ennio Del

doi:10.1002/ajmg.a.36200

Cited by 19 publications

(12 citation statements)

References 14 publications

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“…The databases listed 13 additional patients with much larger overlapping deletions (eight in DECIPHER including the remaining two patients of Zahir et al []; and five in the ISCA database), but the phenotype comparison was less informative because of the large deletion sizes and limited clinical information available on some of these patients. Terrone et al [] published a patient with facial dysmorphism mimicking the Wolf‐Hirschhorn syndrome (WHS) who carried another large deletion overlapping this region. Nevertheless, none of the patients with smaller deletions presented features of WHS, and Terrone et al [] proposed that other genes not present in the smaller deletions could be responsible for the WHS‐like phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…Terrone et al [] published a patient with facial dysmorphism mimicking the Wolf‐Hirschhorn syndrome (WHS) who carried another large deletion overlapping this region. Nevertheless, none of the patients with smaller deletions presented features of WHS, and Terrone et al [] proposed that other genes not present in the smaller deletions could be responsible for the WHS‐like phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…Macrosomia was also present in Patient 5566 of Zahir et al []; but it got normal during early childhood, whereas in our patient the normalization of weight and height did not occur until puberty. The remaining two patients of Zahir et al [] and the patient of Terrone et al [] had normal or low birth weight and length, and macrosomia was not noted in their infancy. Therefore the presence of transient macrosomia in some patients with 14q11.2 microdeletions can be coincidental or it can represent a minor clinical feature of this syndrome.…”

Section: Discussionmentioning

confidence: 99%

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Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

Drabova

Seemanová

Hančárová

et al. 2015

American J of Med Genetics Pt A

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We identified a de novo deletion of 14q11.2 in a Czech patient with developmental delay, mild autistic features, macrosomy, macrocephaly, orthognathic deformities, and dysmorphic facial features. The clinical follow-up of the patient lasting 14 years documented changes in the facial dysmorphism from infancy to adolescence. The deletion affects approximately 200 kb of DNA with five protein-coding genes and two snoRNA genes. Two of the protein-coding genes, SUPT16H and CHD8, have been proposed as candidate genes for a new microdeletion syndrome. Our patient further supports the existence of this syndrome and extends its phenotypic spectrum, especially points to the possibility that orthognathic deformities may be associated with microdeletions of 14q11.2. CHD8 mutations have been found in patients with neurodevelopmental disorders and macrocephaly. The HNRNPC gene, repeatedly deleted in patients with developmental delay, is another candidate as its 5́ end is adjacent to the deletion, and the expression of this gene may be affected by position effect.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

Drabova

Seemanová

Hančárová

et al. 2015

American J of Med Genetics Pt A

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“…CHD8 may serve as a master regulator of a common ASD etiology. [10][11][12] In addition to genetic influences on ASD etiology, environmental parameters can contribute | Original | Article |…”

Section: Introductionmentioning

confidence: 99%

Role of environmental and genetic factors in autism spectrum disorder

Sultana

Uddin

Ahmed

2017

Bangabandhu Sheikh Mujib Medical University Journal

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<p>The aim of this study was to find out the environmental as well as genetic factors responsible for increasing the number of autism spectrum disorder (ASD) patients in Bangladesh. A questionnaire was developed based on 12 environmental factors and genetic aspects. Sixty six patients of ASD and 66 non-ASD control were selected randomly. Among the environmental factors, the age of the mother, premature birth, air pollution, age of the father, hypoxia during childbirth and oral contraceptive came out as significant (p<0.05) factors for ASD incidence compared to the control. Association of multiple factors on an individual was found to be crucial to enhance the risk and exposure to five and six factors was statistically significant (p<0.05) for ASD development. Prospective parents should try to keep the number of risk factors as low as possible before 1-2 months of pregnancy, during pregnancy and 1-2 years after the child birth (for child only).</p>

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“…Interstitial 14q11.2 deletions are rare. To date only five patients with idiopathic DD and cognitive impairment carrying different size deletions involving 14q11.2 region have been reported [Zahir et al, ; Prontera et al, ; Terrone et al, ]. Those patients displayed hypotonia in infancy, and shared similar facial dysmorphic features including widely‐spaced eyes, short nose with broad flat nasal bridge, full lower lip, and auricular anomalies [Zahir et al, ].…”

Section: Introductionmentioning

confidence: 99%

Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay

Smyk¹,

Poluha²,

Jaszczuk³

et al. 2016

American J of Med Genetics Pt A

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Neurodevelopmental disorders have long been associated with chromosomal abnormalities, including microdeletions and microduplications. Submicroscopic 14q11.2 deletions involving the CHD8 and SUPT16H genes have been reported in patients with developmental delay (DD)/intellectual disability (ID) or autism spectrum disorders (ASDs) and/or macrocephaly. Recently, disruptive CHD8 mutations were described in patients with similar phenotypes further showing pivotal role of CHD8 gene in the pathogenesis of DD/ID or ASDs. We report here the first case of ~445 kb de novo microduplication, encompassing the minimal critical 14q11.2 deletion region, in 8-year-old boy showing DD, cognitive impairment and facial dysmorphism. Our results suggest that gain of the chromosomal region 14q11.2 is causative for clinical findings present in the patient.

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A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome

Cited by 19 publications

References 14 publications

Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

Role of environmental and genetic factors in autism spectrum disorder

Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay

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