دورية أكاديمية
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation.
| العنوان: | Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. |
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| المؤلفون: | de Almeida IG Jr; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Kuratani DK; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Gomes LM; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Fiegenbaum M; Human Genetics, UFCSPA, RS, Brazil., Estima Correia EP; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Gazzola Zen PR; Clinical Genetics, UFCSPA and Santa Casa de Misericórdia de Porto Alegre (SCMPA), RS, Brazil; Graduate Program in Pathology, UFCSPA, RS, Brazil., Machado Rosa RF; Clinical Genetics, UFCSPA and Santa Casa de Misericórdia de Porto Alegre (SCMPA), RS, Brazil; Graduate Program in Pathology, UFCSPA, RS, Brazil. Electronic address: rfmrosa@gmail.com. |
| المصدر: | European journal of medical genetics [Eur J Med Genet] 2020 Feb; Vol. 63 (2), pp. 103641. Date of Electronic Publication: 2019 Mar 17. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Amsterdam : Elsevier, c2005- |
| مواضيع طبية MeSH: | Point Mutation*, Epidermal Cyst/*genetics , Holoprosencephaly/*genetics , Hypernatremia/*genetics , Nuclear Proteins/*genetics , Respiratory Tract Fistula/*genetics , Transcription Factors/*genetics, Brain/abnormalities ; Brain/diagnostic imaging ; Epidermal Cyst/diagnosis ; Facies ; Female ; Holoprosencephaly/diagnosis ; Humans ; Hypernatremia/diagnosis ; Infant ; Magnetic Resonance Imaging ; Phenotype ; Respiratory Tract Fistula/diagnosis ; Syndrome ; Tomography, X-Ray Computed |
| مستخلص: | Holoprosencephaly is the most common brain malformation in humans and it is a complex genetic disorder. We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. The patient was a 1 year and 4 months old girl that developed an important neuropsychomotor delay. Currently, she uses a wheelchair to move around and only emits sounds. Computed tomography (CT) scan revealed a semilobar holoprosencephaly and a Dandy-Walker variant. Head magnetic resonance imaging also disclosed corpus callosum agenesis and prefrontal subarachnoid space enlargement. On physical examination at 1 year and 4 months of age, we verified growth retardation, microcephaly, bilateral epicantic fold, upslanting palpebral fissures, bifid nose, and limbs spasticity secondary to hypertonia. Later, she began to present hypernatremia; however, its precise cause was not identified. At 6 years and 10 months of age, a nasal fistula was suspected. Facial CT scan showed an epidermal cyst at cartilaginous portion of the nasal septum. High resolution GTG-Banding karyotype was normal. However, molecular analysis through direct sequencing technique showed a mutation at regulatory region of the ZIC2 gene: c.1599*954T > A, a genetic variation previously described only in a Brazilian patient. Our patient presented findings still not reported in literature among patients with holoprosencephaly, including those with ZIC2 mutations. Thus, the spectrum of abnormalities associated to ZIC2 mutations may be broader and include other defects as those observed in our patient. (Copyright © 2019 Elsevier Masson SAS. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Holoprosencephaly; Hypernatremia; Nasal fistula; Nose defects; ZIC2 |
| المشرفين على المادة: | 0 (Nuclear Proteins) 0 (Transcription Factors) 0 (ZIC2 protein, human) |
| تواريخ الأحداث: | Date Created: 20190322 Date Completed: 20201005 Latest Revision: 20201005 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1016/j.ejmg.2019.03.005 |
| PMID: | 30894326 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1878-0849 |
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| DOI: | 10.1016/j.ejmg.2019.03.005 |