A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation

Hyon, Capucine; Marlin, Sandrine; Chantot‐Bastaraud, Sandra; Mabboux, Philippe; Beaujard, M; Ageeli, Essam Al; Vazquez, Marie‐Paule; Picard, A.; Siffroi, Jean‐Pierre; Portnoı̈, Marie-France

doi:10.1016/j.ejmg.2010.12.006

Cited by 25 publications

(22 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Many other patients with microduplications of varying size have been reported with different breakpoints and gene content [5,7,9]. Bruno et al [5] reported on two cases (cases 9 and 11) in which duplicated regions overlapped the one reported here, containing CRK , YWHAE, and BHLA9 genes.…”

Section: Discussionmentioning

confidence: 55%

See 1 more Smart Citation

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems

et al. 2012

View full text Add to dashboard Cite

BackgroundDeletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. In particular, different dysmorphic features associated with PAFAH1B1 or YWHAE duplication have suggested the need to classify the patient clinical features in two groups according to which gene is involved in the chromosomal duplication.MethodsWe analyze the proband and his family by classical cytogenetic and array-CGH analyses. The putative rearrangement was confirmed by fluorescence in situ hybridization.ResultsWe have identified a family segregating a 17p13.3 duplication extending 329.5 kilobases by FISH and array-CGH involving the YWHAE gene, but not PAFAH1B1, affected by a mild dysmorphic phenotype with associated autism and mental retardation. We propose that BHLHA9, YWHAE, and CRK genes contribute to the phenotype of our patient. The small chromosomal duplication was inherited from his mother who was affected by a bipolar and borderline disorder and was alcohol addicted.ConclusionsWe report an additional familial case of small 17p13.3 chromosomal duplication including only BHLHA9, YWHAE, and CRK genes. Our observation and further cases with similar microduplications are expected to be diagnosed, and will help better characterise the clinical spectrum of phenotypes associated with 17p13.3 microduplications.

show abstract

Section: Discussionmentioning

confidence: 55%

“…Recently, new genomic disorders have been identified in the MDS locus. To date, twenty-two microdeletions [2-6] and sixteen microduplications [5,7-9] overlapping the MDS critical region have been described in unrelated individuals. All these submicroscopic rearrangements are variable in size and have distinct breakpoints.…”

Section: Introductionmentioning

confidence: 99%

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems

et al. 2012

View full text Add to dashboard Cite

show abstract

“…Because duplication of 17p13.3 varies in size, Bruno et al [2010] proposed 2 different groups of patients with distinct types of microduplication and distinct phenotypic features. Meanwhile, a third group of patients has been proposed who possess duplication of the complete MDS region [Hyon et al, 2011]. Interestingly, our patient possesses complete duplication of this region, sharing features described for this type of patient ( tables 1 and 2 ).…”

Section: Resultsmentioning

confidence: 78%

“…The majority of patients with a duplicated MSD region have been reported with a relative increase of body weight and height and recurrent middle ear infections, features that are absent in our patient. Also, our patient presents abnormalities in hands and feet, showing long fingers, bilateral equinovalgus and clinodactyly of the 4th toes, with dysplastic concave toenails, features described for some patients with duplication of 17p13.3 [Bi et al, 2009;Bruno et al, 2010;Armour et al, 2011;Hyon et al, 2011]. In addition, our patient has severe visual dysfunction and immaturity of auditory brainstem-evoked responses, which might be associated with the reduction of the visual cortex found in the 17p13.3 duplication.…”

Section: Resultsmentioning

confidence: 91%

See 1 more Smart Citation

Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3)

Esparza‐Garrido

Velázquez-Wong²,

Aráujo-Solís³

et al. 2012

Mol Syndromol

View full text Add to dashboard Cite

Submicroscopic duplications in the Miller-Dieker critical region have been recently described as new genomic disorders. To date, only a few cases have been reported with overlapping 17p13.3 duplications in this region. Also, small deletions that affect chromosome region 10p14→pter are rarely described in the literature. In this study, we describe, to our knowledge for the first time, a 5-year-old female patient with intellectual disability who has an unbalanced 10;17 translocation inherited from the father. The girl was diagnosed by subtelomeric FISH and array-CGH, showing a 4.43-Mb heterozygous deletion on chromosome 10p that involved 14 genes and a 3.22-Mb single-copy gain on chromosome 17p, which includes the critical region of the Miller-Dieker syndrome and 61 genes. The patient’s karyotype was established as 46,XX.arr 10p15.3p15.1(138,206–4,574,436)x1,17p13.3(87,009–3,312,600)x3. Because our patient exhibits a combination of 2 imbalances, she has phenotypic features of both chromosome abnormalities, which have been reported separately. Interestingly, the majority of patients who carry the deletion 10p have visual and auditory deficiencies that are attributed to loss of the GATA3 gene. However, our patient also presents severe hearing and visual problems even though GATA3 is present, suggesting the involvement of different genes that affect the development of the visual and auditory systems.

show abstract

The Emerging Roles ofLIS1 Biomechanics in Cellular and Cortical Homeostasis

Kshirsagarand,

Reiner

2023

Neocortical Neurogenesis in Development and Evolution

View full text Add to dashboard Cite

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation

Cited by 25 publications

References 17 publications

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems

Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3)

The Emerging Roles ofLIS1 Biomechanics in Cellular and Cortical Homeostasis

Contact Info

Product

Resources

About