An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects

Rao, Aparna D.; O’Donnell, Sheridan; Bain, Nicole; Meldrum, Cliff; Shorter, Damon; Goel, Himanshu

doi:10.1016/j.ejmg.2013.12.011

Cited by 38 publications

(56 citation statements)

References 27 publications

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“…20,21 There is growing evidence that haploinsufficiency for NFIA is associated with a phenotype characterized by hypoplastic or absent corpus callosum, hydrocephalus, and developmental delay, and in some patients a tethered spinal cord, Chiari type I malformation, seizures, and urinary tract anomalies. 8,[22][23][24][25] Two patients in our series had small deletions involving NFIA. Patient 99199 was noted to have a 254-kb deletion that encompasses exons 4 through 11 of NFIA (Figure 1a).…”

Section: Resultsmentioning

confidence: 75%

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

Hollenbeck

Williams

Drazba

et al. 2017

Genetics in Medicine

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Section: Resultsmentioning

confidence: 75%

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

Hollenbeck

Williams

Drazba

et al. 2017

Genetics in Medicine

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“…table 3). Two were intragenic deletions of NFIA, identified in individuals with craniosynostosis, and it was hypothesized that this clinical feature was due to NFIA haploinsufficiency [Rao et al, 2014;Nyboe et al, 2015]. A 1p34.1p31 inversion-duplication was also described in a patient with craniosynostosis, but the breakpoints were not characterized [Garcia-Heras et al, 1999].…”

Section: Discussionmentioning

confidence: 99%

“…But, more recently, a single patient with craniosynostosis and a family with phenotypic 1p32.p31 syndrome and craniosynostosis were found to have microdeletions which affected only NFIA , thus suggesting that this gene was also important in craniofacial development [Rao et al, 2014;Nyboe et al, 2015].…”

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confidence: 99%

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

Rivera‐Pedroza¹,

Barraza-García²,

Paumard‐Hernández

et al. 2016

Mol Syndromol

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Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with renal and central nervous system malformations, cleft palate, severe ocular anomalies, and cutis laxa, in addition to the previously described clinical data present in other cases with deletions encompassing this region, such as developmental delay, seizures, round face with a prominent nose, micro/retrognathia, half-opened mouth, short neck, hand/foot malformations, hernia, congenital heart malformations, and abnormal external genitalia. The deletion spanned ∼18.6 Mb and included a total of 68 OMIM protein coding genes. We have reviewed 17 cases previously described in the literature and in DECIPHER involving the chromosomal region 1p31.1p31.3. Only 3 of these affect the whole region, 9 are partial deletions of this region, and 5 are much smaller deletions. Taking into account the MORBID ID and the haploinsufficiency score of the genes, we go on to propose which genes may explain particular clinical features observed in the patient. IL23R may be responsible for the craniosynostosis, FOXD2 for the renal anomalies, LHX8 for closure defects of the palate, and ST6GALNAC3 for skin anomalies. In summary, we have identified a chromosome 1p31.1p31.3 deletion in a patient with an atypical presentation of craniosynostosis amongst other more typical features observed in individuals with similar deletions.

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“…One patient with developmental delay, macrocephaly, hypoplastic corpus callosum, metopic synostosis, and hematuria has been described with an intragenic microdeletion of exons 4-9 of NFIA [Rao et al, 2014]. Additionally, a family (a father and 3 children) had a 109-kb deletion of chromosome 1p31.3 (deleting exons 1 and 2 of NFIA ) [Nyboe et al, 2015].…”

Section: Nfiamentioning

confidence: 99%

Genetic Causes of Craniosynostosis: An Update

Goos

Mathijssen²

2018

Mol Syndromol

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In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017.

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An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects

Cited by 38 publications

References 27 publications

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

Genetic Causes of Craniosynostosis: An Update

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